MYBPC1 (myosin binding protein C1) - Rat Genome Database

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Gene: MYBPC1 (myosin binding protein C1) Homo sapiens
Analyze
Symbol: MYBPC1
Name: myosin binding protein C1
RGD ID: 1351602
HGNC Page HGNC
Description: Enables myosin binding activity. Predicted to be involved in cell adhesion. Predicted to act upstream of or within muscle contraction. Predicted to be located in myofibril. Implicated in distal arthrogryposis type 1B and lethal congenital contracture syndrome 4.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: C-protein, skeletal muscle slow isoform; LCCS4; MYBPCC; MYBPCS; myosin binding protein C, slow type; myosin-binding protein C, slow-type; MYOTREM; skeletal muscle C-protein; slow MyBP-C; slow skeletal-type muscle myosin-binding-protein C; slow-type; ssMyBP-C
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3812101,594,971 - 101,695,841 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl12101,568,353 - 101,686,028 (+)EnsemblGRCh38hg38GRCh38
GRCh3712101,988,749 - 102,079,806 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3612100,512,878 - 100,603,789 (+)NCBINCBI36hg18NCBI36
Build 3412100,491,214 - 100,582,126NCBI
Celera12101,653,418 - 101,744,340 (+)NCBI
Cytogenetic Map12q23.2NCBI
HuRef1299,048,762 - 99,139,697 (+)NCBIHuRef
CHM1_112101,955,428 - 102,046,334 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytosol  (TAS)
myofibril  (ISS)
myosin filament  (IEA)

Molecular Function

References

Additional References at PubMed
PMID:1429890   PMID:3011605   PMID:7757816   PMID:8375400   PMID:8889549   PMID:9252413   PMID:11076863   PMID:11230166   PMID:11256614   PMID:12154082   PMID:12477932   PMID:12628722  
PMID:14702039   PMID:15203218   PMID:15342556   PMID:15385448   PMID:15489336   PMID:15840729   PMID:16003462   PMID:16052631   PMID:16335786   PMID:16344560   PMID:16364241   PMID:16381901  
PMID:16407297   PMID:16501887   PMID:16918501   PMID:18157088   PMID:19913121   PMID:20045868   PMID:20379614   PMID:20628086   PMID:21061152   PMID:21426302   PMID:21873635   PMID:22610851  
PMID:23284306   PMID:23414517   PMID:24023788   PMID:24093860   PMID:24270810   PMID:25679999   PMID:26661508   PMID:26831109   PMID:29872149   PMID:30948266   PMID:31025394   PMID:31264822  
PMID:31586073   PMID:33961781  


Genomics

Comparative Map Data
MYBPC1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3812101,594,971 - 101,695,841 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl12101,568,353 - 101,686,028 (+)EnsemblGRCh38hg38GRCh38
GRCh3712101,988,749 - 102,079,806 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3612100,512,878 - 100,603,789 (+)NCBINCBI36hg18NCBI36
Build 3412100,491,214 - 100,582,126NCBI
Celera12101,653,418 - 101,744,340 (+)NCBI
Cytogenetic Map12q23.2NCBI
HuRef1299,048,762 - 99,139,697 (+)NCBIHuRef
CHM1_112101,955,428 - 102,046,334 (+)NCBICHM1_1
Mybpc1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391088,354,141 - 88,441,051 (-)NCBIGRCm39mm39
GRCm39 Ensembl1088,354,141 - 88,441,014 (-)Ensembl
GRCm381088,518,279 - 88,605,229 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1088,518,279 - 88,605,152 (-)EnsemblGRCm38mm10GRCm38
MGSCv371087,981,027 - 88,067,897 (-)NCBIGRCm37mm9NCBIm37
MGSCv361087,948,081 - 88,034,813 (-)NCBImm8
Celera1090,498,217 - 90,585,463 (-)NCBICelera
Cytogenetic Map10C1NCBI
Mybpc1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2722,930,350 - 23,015,981 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl722,930,350 - 23,015,957 (-)Ensembl
Rnor_6.0729,086,159 - 29,171,909 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl729,086,156 - 29,171,783 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0729,192,153 - 29,277,697 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4725,213,498 - 25,300,435 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1725,233,771 - 25,269,625 (-)NCBI
Celera720,090,183 - 20,175,952 (-)NCBICelera
Cytogenetic Map7q13NCBI
Mybpc1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540536,992,564 - 37,070,380 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540536,992,798 - 37,066,154 (+)NCBIChiLan1.0ChiLan1.0
MYBPC1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.112102,578,014 - 102,669,618 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl12102,578,014 - 102,669,618 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01299,179,611 - 99,269,521 (+)NCBIMhudiblu_PPA_v0panPan3
MYBPC1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11540,504,974 - 40,590,441 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1540,504,160 - 40,613,978 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1540,873,662 - 40,958,786 (+)NCBI
ROS_Cfam_1.01541,160,019 - 41,244,473 (+)NCBI
ROS_Cfam_1.0 Ensembl1541,160,056 - 41,244,474 (+)Ensembl
UMICH_Zoey_3.11540,414,805 - 40,498,417 (+)NCBI
UNSW_CanFamBas_1.01540,523,727 - 40,607,814 (+)NCBI
UU_Cfam_GSD_1.01540,797,933 - 40,882,213 (+)NCBI
Mybpc1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494519,362,845 - 19,444,730 (-)NCBI
SpeTri2.0NW_00493649212,373,240 - 12,455,371 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MYBPC1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl582,557,607 - 82,696,126 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1582,557,975 - 82,651,237 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2586,510,703 - 86,642,297 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MYBPC1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11196,843,331 - 96,942,336 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl1196,843,512 - 96,944,035 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666037148,061,325 - 148,160,459 (-)NCBIVero_WHO_p1.0
Mybpc1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247506,380,658 - 6,447,404 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
A004I28  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712102,079,397 - 102,079,592UniSTSGRCh37
Build 3612100,603,528 - 100,603,723RGDNCBI36
Celera12101,744,078 - 101,744,273RGD
Cytogenetic Map12q23.2UniSTS
HuRef1299,139,436 - 99,139,631UniSTS
GeneMap99-GB4 RH Map12400.21UniSTS
NCBI RH Map12689.3UniSTS
RH91854  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712102,079,801 - 102,079,920UniSTSGRCh37
Build 3612100,603,932 - 100,604,051RGDNCBI36
Celera12101,744,483 - 101,744,602RGD
Cytogenetic Map12q23.2UniSTS
HuRef1299,139,840 - 99,139,959UniSTS
GeneMap99-GB4 RH Map12401.81UniSTS
G59404  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712102,079,392 - 102,079,500UniSTSGRCh37
Build 3612100,603,523 - 100,603,631RGDNCBI36
Celera12101,744,073 - 101,744,181RGD
Cytogenetic Map12q23.2UniSTS
HuRef1299,139,431 - 99,139,539UniSTS
TNG Radiation Hybrid Map1250779.0UniSTS
D12S1149E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712102,074,209 - 102,074,291UniSTSGRCh37
Build 3612100,598,340 - 100,598,422RGDNCBI36
Celera12101,738,890 - 101,738,972RGD
Cytogenetic Map12q23.2UniSTS
HuRef1299,134,258 - 99,134,340UniSTS
D12S1171E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712102,041,871 - 102,043,085UniSTSGRCh37
Build 3612100,566,002 - 100,567,216RGDNCBI36
Celera12101,706,544 - 101,707,758RGD
Cytogenetic Map12q23.2UniSTS
HuRef1299,101,926 - 99,103,140UniSTS
G64621  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712102,069,310 - 102,069,544UniSTSGRCh37
Build 3612100,593,441 - 100,593,675RGDNCBI36
Celera12101,733,991 - 101,734,225RGD
Cytogenetic Map12q23.2UniSTS
HuRef1299,129,359 - 99,129,593UniSTS
G35330  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712102,030,920 - 102,031,032UniSTSGRCh37
Build 3612100,555,051 - 100,555,163RGDNCBI36
Celera12101,695,593 - 101,695,705RGD
Cytogenetic Map12q23.2UniSTS
HuRef1299,090,975 - 99,091,087UniSTS
D12S1963  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712102,079,389 - 102,079,501UniSTSGRCh37
Build 3612100,603,520 - 100,603,632RGDNCBI36
Celera12101,744,070 - 101,744,182RGD
Cytogenetic Map12q23.2UniSTS
HuRef1299,139,428 - 99,139,540UniSTS
GeneMap99-GB4 RH Map12400.57UniSTS
Whitehead-RH Map12498.5UniSTS
Whitehead-YAC Contig Map12 UniSTS
NCBI RH Map12689.3UniSTS
D12S1162E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map12q23.2UniSTS
RH65715  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712102,056,227 - 102,057,295UniSTSGRCh37
Celera12101,720,910 - 101,721,978UniSTS
Cytogenetic Map12q23.2UniSTS
HuRef1299,116,274 - 99,117,342UniSTS
GeneMap99-GB4 RH Map12400.97UniSTS
NCBI RH Map12689.3UniSTS
STS-X66276  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map12q23.2UniSTS
GeneMap99-GB4 RH Map12398.9UniSTS
NCBI RH Map12689.3UniSTS
D12S1151E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map12q23.2UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4223
Count of miRNA genes:906
Interacting mature miRNAs:1071
Transcripts:ENST00000360610, ENST00000361466, ENST00000361685, ENST00000392934, ENST00000441232, ENST00000452455, ENST00000536007, ENST00000541119, ENST00000545503, ENST00000547405, ENST00000547509, ENST00000547627, ENST00000548298, ENST00000548532, ENST00000548834, ENST00000549145, ENST00000549608, ENST00000550270, ENST00000550312, ENST00000550501, ENST00000550514, ENST00000550812, ENST00000551300, ENST00000552198, ENST00000553190
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1 1 806 811 1 806
Medium 132 61 19 80 67 1 134 18 1293 3 236 32 79 24 77
Low 1265 1912 528 150 490 67 2598 808 2077 24 652 641 86 1 671 1643 1 1
Below cutoff 929 964 968 227 754 228 584 512 273 126 347 687 502 260

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_031912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001254718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001254719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001254720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001254721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001254722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001254723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001404675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001404676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001404677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001404678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001404679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001404680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001404681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_206819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_206820 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_206821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005268876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006719405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006719406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006719407 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006719408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006719409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006719410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006719411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA196860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC010205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC090671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC117505 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL589595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL596726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL831993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832456 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL834249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015187 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC030980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC065720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC092418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC117217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP232990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ942432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX499532 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX500247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX649073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD614901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA433791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  F01203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X66276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X73114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000361466   ⟹   ENSP00000354849
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12101,594,971 - 101,686,028 (+)Ensembl
RefSeq Acc Id: ENST00000361685   ⟹   ENSP00000354845
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12101,594,971 - 101,685,876 (+)Ensembl
RefSeq Acc Id: ENST00000392934   ⟹   ENSP00000376665
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12101,594,971 - 101,685,806 (+)Ensembl
RefSeq Acc Id: ENST00000452455   ⟹   ENSP00000400908
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12101,594,969 - 101,685,869 (+)Ensembl
RefSeq Acc Id: ENST00000536007   ⟹   ENSP00000446128
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12101,594,996 - 101,685,615 (+)Ensembl
RefSeq Acc Id: ENST00000541119   ⟹   ENSP00000442847
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12101,594,996 - 101,685,615 (+)Ensembl
RefSeq Acc Id: ENST00000545503   ⟹   ENSP00000440034
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12101,594,996 - 101,685,615 (+)Ensembl
RefSeq Acc Id: ENST00000547405   ⟹   ENSP00000448175
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12101,594,849 - 101,685,811 (+)Ensembl
RefSeq Acc Id: ENST00000547509   ⟹   ENSP00000447362
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12101,594,971 - 101,685,812 (+)Ensembl
RefSeq Acc Id: ENST00000547627
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12101,594,971 - 101,628,180 (+)Ensembl
RefSeq Acc Id: ENST00000548298
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12101,664,423 - 101,673,484 (+)Ensembl
RefSeq Acc Id: ENST00000548532
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12101,664,440 - 101,670,409 (+)Ensembl
RefSeq Acc Id: ENST00000548834
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12101,629,026 - 101,632,122 (+)Ensembl
RefSeq Acc Id: ENST00000549145   ⟹   ENSP00000447660
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12101,594,971 - 101,686,018 (+)Ensembl
RefSeq Acc Id: ENST00000549608   ⟹   ENSP00000501089
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12101,666,203 - 101,685,811 (+)Ensembl
RefSeq Acc Id: ENST00000550270   ⟹   ENSP00000449702
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12101,595,071 - 101,684,395 (+)Ensembl
RefSeq Acc Id: ENST00000550312
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12101,626,852 - 101,637,150 (+)Ensembl
RefSeq Acc Id: ENST00000550501
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12101,594,971 - 101,685,880 (+)Ensembl
RefSeq Acc Id: ENST00000550514   ⟹   ENSP00000447404
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12101,568,353 - 101,642,439 (+)Ensembl
RefSeq Acc Id: ENST00000550812
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12101,660,000 - 101,661,246 (+)Ensembl
RefSeq Acc Id: ENST00000551300   ⟹   ENSP00000447116
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12101,594,997 - 101,685,869 (+)Ensembl
RefSeq Acc Id: ENST00000552198
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12101,617,179 - 101,642,449 (+)Ensembl
RefSeq Acc Id: ENST00000553190   ⟹   ENSP00000447900
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12101,594,984 - 101,685,870 (+)Ensembl
RefSeq Acc Id: ENST00000673861   ⟹   ENSP00000500957
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12101,617,202 - 101,627,804 (+)Ensembl
RefSeq Acc Id: NM_001254718   ⟹   NP_001241647
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812101,594,971 - 101,686,028 (+)NCBI
HuRef1299,048,762 - 99,139,697 (+)NCBI
CHM1_112101,955,428 - 102,046,334 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001254719   ⟹   NP_001241648
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812101,594,971 - 101,686,028 (+)NCBI
GRCh3712101,988,709 - 102,079,658 (+)NCBI
HuRef1299,048,762 - 99,139,697 (+)NCBI
CHM1_112101,955,428 - 102,046,334 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001254720   ⟹   NP_001241649
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812101,594,971 - 101,686,028 (+)NCBI
GRCh3712101,988,709 - 102,079,658 (+)NCBI
HuRef1299,048,762 - 99,139,697 (+)NCBI
CHM1_112101,955,428 - 102,046,334 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001254721   ⟹   NP_001241650
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812101,594,971 - 101,686,028 (+)NCBI
GRCh3712101,988,709 - 102,079,658 (+)NCBI
HuRef1299,048,762 - 99,139,697 (+)NCBI
CHM1_112101,955,428 - 102,046,334 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001254722   ⟹   NP_001241651
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812101,594,971 - 101,686,028 (+)NCBI
GRCh3712101,988,709 - 102,079,658 (+)NCBI
HuRef1299,048,762 - 99,139,697 (+)NCBI
CHM1_112101,955,428 - 102,046,334 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001254723   ⟹   NP_001241652
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812101,594,971 - 101,686,028 (+)NCBI
GRCh3712101,988,709 - 102,079,658 (+)NCBI
HuRef1299,048,762 - 99,139,697 (+)NCBI
CHM1_112101,955,428 - 102,046,334 (+)NCBI
Sequence:
RefSeq Acc Id: NM_002465   ⟹   NP_002456
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812101,594,971 - 101,686,028 (+)NCBI
GRCh3712101,988,709 - 102,079,658 (+)NCBI
Build 3612100,512,878 - 100,603,789 (+)NCBI Archive
HuRef1299,048,762 - 99,139,697 (+)NCBI
CHM1_112101,955,428 - 102,046,334 (+)NCBI
Sequence:
RefSeq Acc Id: NM_206819   ⟹   NP_996555
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812101,594,971 - 101,686,028 (+)NCBI
GRCh3712101,988,709 - 102,079,658 (+)NCBI
Build 3612100,512,878 - 100,603,789 (+)NCBI Archive
HuRef1299,048,762 - 99,139,697 (+)NCBI
CHM1_112101,955,428 - 102,046,334 (+)NCBI
Sequence:
RefSeq Acc Id: NM_206820   ⟹   NP_996556
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812101,594,971 - 101,686,028 (+)NCBI
GRCh3712101,988,709 - 102,079,658 (+)NCBI
Build 3612100,512,878 - 100,603,789 (+)NCBI Archive
HuRef1299,048,762 - 99,139,697 (+)NCBI
CHM1_112101,955,428 - 102,046,334 (+)NCBI
Sequence:
RefSeq Acc Id: NM_206821   ⟹   NP_996557
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812101,594,971 - 101,686,028 (+)NCBI
GRCh3712101,988,709 - 102,079,658 (+)NCBI
Build 3612100,512,878 - 100,603,789 (+)NCBI Archive
HuRef1299,048,762 - 99,139,697 (+)NCBI
CHM1_112101,955,428 - 102,046,334 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005268876   ⟹   XP_005268933
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812101,594,971 - 101,686,028 (+)NCBI
GRCh3712101,988,709 - 102,079,658 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006719405   ⟹   XP_006719468
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812101,594,971 - 101,686,028 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006719406   ⟹   XP_006719469
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812101,594,971 - 101,686,028 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006719407   ⟹   XP_006719470
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812101,594,971 - 101,686,028 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006719408   ⟹   XP_006719471
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812101,594,971 - 101,686,028 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006719409   ⟹   XP_006719472
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812101,594,971 - 101,686,028 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006719410   ⟹   XP_006719473
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812101,594,971 - 101,686,028 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006719411   ⟹   XP_006719474
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812101,594,971 - 101,686,028 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017019315   ⟹   XP_016874804
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812101,594,971 - 101,686,028 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017019316   ⟹   XP_016874805
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812101,594,971 - 101,695,841 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017019317   ⟹   XP_016874806
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812101,594,971 - 101,686,028 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017019318   ⟹   XP_016874807
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812101,594,971 - 101,686,028 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017019319   ⟹   XP_016874808
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812101,594,971 - 101,686,028 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017019320   ⟹   XP_016874809
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812101,594,971 - 101,686,028 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017019321   ⟹   XP_016874810
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812101,594,971 - 101,686,028 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017019322   ⟹   XP_016874811
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812101,594,971 - 101,686,028 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047428875   ⟹   XP_047284831
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812101,594,971 - 101,686,028 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001241647 (Get FASTA)   NCBI Sequence Viewer  
  NP_001241648 (Get FASTA)   NCBI Sequence Viewer  
  NP_001241649 (Get FASTA)   NCBI Sequence Viewer  
  NP_001241650 (Get FASTA)   NCBI Sequence Viewer  
  NP_001241651 (Get FASTA)   NCBI Sequence Viewer  
  NP_001241652 (Get FASTA)   NCBI Sequence Viewer  
  NP_001391604 (Get FASTA)   NCBI Sequence Viewer  
  NP_001391605 (Get FASTA)   NCBI Sequence Viewer  
  NP_001391606 (Get FASTA)   NCBI Sequence Viewer  
  NP_001391607 (Get FASTA)   NCBI Sequence Viewer  
  NP_001391608 (Get FASTA)   NCBI Sequence Viewer  
  NP_001391609 (Get FASTA)   NCBI Sequence Viewer  
  NP_001391610 (Get FASTA)   NCBI Sequence Viewer  
  NP_002456 (Get FASTA)   NCBI Sequence Viewer  
  NP_996555 (Get FASTA)   NCBI Sequence Viewer  
  NP_996556 (Get FASTA)   NCBI Sequence Viewer  
  NP_996557 (Get FASTA)   NCBI Sequence Viewer  
  XP_005268933 (Get FASTA)   NCBI Sequence Viewer  
  XP_006719468 (Get FASTA)   NCBI Sequence Viewer  
  XP_006719469 (Get FASTA)   NCBI Sequence Viewer  
  XP_006719470 (Get FASTA)   NCBI Sequence Viewer  
  XP_006719471 (Get FASTA)   NCBI Sequence Viewer  
  XP_006719472 (Get FASTA)   NCBI Sequence Viewer  
  XP_006719473 (Get FASTA)   NCBI Sequence Viewer  
  XP_006719474 (Get FASTA)   NCBI Sequence Viewer  
  XP_016874804 (Get FASTA)   NCBI Sequence Viewer  
  XP_016874805 (Get FASTA)   NCBI Sequence Viewer  
  XP_016874806 (Get FASTA)   NCBI Sequence Viewer  
  XP_016874807 (Get FASTA)   NCBI Sequence Viewer  
  XP_016874808 (Get FASTA)   NCBI Sequence Viewer  
  XP_016874809 (Get FASTA)   NCBI Sequence Viewer  
  XP_016874810 (Get FASTA)   NCBI Sequence Viewer  
  XP_016874811 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284831 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH65720 (Get FASTA)   NCBI Sequence Viewer  
  AAH92418 (Get FASTA)   NCBI Sequence Viewer  
  AAI17218 (Get FASTA)   NCBI Sequence Viewer  
  AAI43496 (Get FASTA)   NCBI Sequence Viewer  
  AAI43503 (Get FASTA)   NCBI Sequence Viewer  
  AAI43504 (Get FASTA)   NCBI Sequence Viewer  
  AAI43505 (Get FASTA)   NCBI Sequence Viewer  
  BAF85665 (Get FASTA)   NCBI Sequence Viewer  
  BAG51755 (Get FASTA)   NCBI Sequence Viewer  
  BAG58568 (Get FASTA)   NCBI Sequence Viewer  
  BAG59277 (Get FASTA)   NCBI Sequence Viewer  
  BAH13954 (Get FASTA)   NCBI Sequence Viewer  
  CAA46987 (Get FASTA)   NCBI Sequence Viewer  
  CAA51545 (Get FASTA)   NCBI Sequence Viewer  
  CAD38625 (Get FASTA)   NCBI Sequence Viewer  
  CAD38925 (Get FASTA)   NCBI Sequence Viewer  
  CAD89907 (Get FASTA)   NCBI Sequence Viewer  
  CAD89927 (Get FASTA)   NCBI Sequence Viewer  
  CAD91144 (Get FASTA)   NCBI Sequence Viewer  
  CAD91150 (Get FASTA)   NCBI Sequence Viewer  
  CAD91153 (Get FASTA)   NCBI Sequence Viewer  
  CAH56129 (Get FASTA)   NCBI Sequence Viewer  
  EAW97663 (Get FASTA)   NCBI Sequence Viewer  
  EAW97664 (Get FASTA)   NCBI Sequence Viewer  
  EAW97665 (Get FASTA)   NCBI Sequence Viewer  
  EAW97666 (Get FASTA)   NCBI Sequence Viewer  
  EAW97667 (Get FASTA)   NCBI Sequence Viewer  
  EAW97668 (Get FASTA)   NCBI Sequence Viewer  
  EAW97669 (Get FASTA)   NCBI Sequence Viewer  
  EAW97670 (Get FASTA)   NCBI Sequence Viewer  
  EAW97671 (Get FASTA)   NCBI Sequence Viewer  
  EAW97672 (Get FASTA)   NCBI Sequence Viewer  
  Q00872 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_002456   ⟸   NM_002465
- Peptide Label: isoform 1
- UniProtKB: Q00872 (UniProtKB/Swiss-Prot),   Q86TA8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_996555   ⟸   NM_206819
- Peptide Label: isoform 2
- UniProtKB: Q00872 (UniProtKB/Swiss-Prot),   A8KAB1 (UniProtKB/TrEMBL),   Q86TA8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_996556   ⟸   NM_206820
- Peptide Label: isoform 3
- UniProtKB: Q00872 (UniProtKB/Swiss-Prot),   A8KAB1 (UniProtKB/TrEMBL),   Q86TA8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_996557   ⟸   NM_206821
- Peptide Label: isoform 4
- UniProtKB: Q00872 (UniProtKB/Swiss-Prot),   Q86TA8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001241647   ⟸   NM_001254718
- Peptide Label: isoform 5
- UniProtKB: Q00872 (UniProtKB/Swiss-Prot),   Q86TA8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001241648   ⟸   NM_001254719
- Peptide Label: isoform 6
- UniProtKB: Q00872 (UniProtKB/Swiss-Prot),   Q86TA8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001241650   ⟸   NM_001254721
- Peptide Label: isoform 8
- UniProtKB: Q00872 (UniProtKB/Swiss-Prot),   Q86TA8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001241649   ⟸   NM_001254720
- Peptide Label: isoform 7
- UniProtKB: Q00872 (UniProtKB/Swiss-Prot),   Q86TA8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001241652   ⟸   NM_001254723
- Peptide Label: isoform 10
- UniProtKB: Q00872 (UniProtKB/Swiss-Prot),   B3KPP3 (UniProtKB/TrEMBL),   Q86TA8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001241651   ⟸   NM_001254722
- Peptide Label: isoform 9
- UniProtKB: Q00872 (UniProtKB/Swiss-Prot),   Q86TA8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005268933   ⟸   XM_005268876
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_006719474   ⟸   XM_006719411
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: XP_006719472   ⟸   XM_006719409
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_006719470   ⟸   XM_006719407
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_006719469   ⟸   XM_006719406
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_006719473   ⟸   XM_006719410
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_006719468   ⟸   XM_006719405
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_006719471   ⟸   XM_006719408
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016874809   ⟸   XM_017019320
- Peptide Label: isoform X14
- Sequence:
RefSeq Acc Id: XP_016874811   ⟸   XM_017019322
- Peptide Label: isoform X17
- Sequence:
RefSeq Acc Id: XP_016874808   ⟸   XM_017019319
- Peptide Label: isoform X13
- Sequence:
RefSeq Acc Id: XP_016874806   ⟸   XM_017019317
- Peptide Label: isoform X11
- Sequence:
RefSeq Acc Id: XP_016874810   ⟸   XM_017019321
- Peptide Label: isoform X15
- Sequence:
RefSeq Acc Id: XP_016874805   ⟸   XM_017019316
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_016874804   ⟸   XM_017019315
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016874807   ⟸   XM_017019318
- Peptide Label: isoform X12
- Sequence:
RefSeq Acc Id: ENSP00000442847   ⟸   ENST00000541119
RefSeq Acc Id: ENSP00000500957   ⟸   ENST00000673861
RefSeq Acc Id: ENSP00000400908   ⟸   ENST00000452455
RefSeq Acc Id: ENSP00000440034   ⟸   ENST00000545503
RefSeq Acc Id: ENSP00000354849   ⟸   ENST00000361466
RefSeq Acc Id: ENSP00000354845   ⟸   ENST00000361685
RefSeq Acc Id: ENSP00000447362   ⟸   ENST00000547509
RefSeq Acc Id: ENSP00000448175   ⟸   ENST00000547405
RefSeq Acc Id: ENSP00000447660   ⟸   ENST00000549145
RefSeq Acc Id: ENSP00000501089   ⟸   ENST00000549608
RefSeq Acc Id: ENSP00000446128   ⟸   ENST00000536007
RefSeq Acc Id: ENSP00000376665   ⟸   ENST00000392934
RefSeq Acc Id: ENSP00000449702   ⟸   ENST00000550270
RefSeq Acc Id: ENSP00000447404   ⟸   ENST00000550514
RefSeq Acc Id: ENSP00000447116   ⟸   ENST00000551300
RefSeq Acc Id: ENSP00000447900   ⟸   ENST00000553190
RefSeq Acc Id: XP_047284831   ⟸   XM_047428875
- Peptide Label: isoform X16
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q00872-F1-model_v2 AlphaFold Q00872 1-1141 view protein structure

Promoters
RGD ID:7225167
Promoter ID:EPDNEW_H18329
Type:multiple initiation site
Name:MYBPC1_1
Description:myosin binding protein C, slow type
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812101,594,971 - 101,595,031EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002465.4(MYBPC1):c.706T>C (p.Trp236Arg) single nucleotide variant Arthrogryposis, distal, type 1B [RCV000022670] Chr12:101642459 [GRCh38]
Chr12:102036237 [GRCh37]
Chr12:12q23.2
pathogenic
NM_002465.4(MYBPC1):c.2566T>C (p.Tyr856His) single nucleotide variant Arthrogryposis, distal, type 1B [RCV000022671] Chr12:101670362 [GRCh38]
Chr12:102064140 [GRCh37]
Chr12:12q23.2
pathogenic|uncertain significance
NM_002465.4(MYBPC1):c.952C>T (p.Arg318Ter) single nucleotide variant Lethal congenital contracture syndrome 4 [RCV000032985]|Myopathy, congenital, with tremor [RCV001420564] Chr12:101644783 [GRCh38]
Chr12:102038561 [GRCh37]
Chr12:12q23.2
pathogenic|uncertain significance
GRCh38/hg38 12q23.1-23.3(chr12:100670616-108583607)x1 copy number loss See cases [RCV000051320] Chr12:100670616..108583607 [GRCh38]
Chr12:101064394..108977383 [GRCh37]
Chr12:99588525..107501512 [NCBI36]
Chr12:12q23.1-23.3
pathogenic
NM_002465.3(MYBPC1):c.300C>T (p.Ile100=) single nucleotide variant Malignant melanoma [RCV000069773] Chr12:101631581 [GRCh38]
Chr12:102025359 [GRCh37]
Chr12:100549490 [NCBI36]
Chr12:12q23.2
not provided
NM_002465.3(MYBPC1):c.3176C>T (p.Pro1059Leu) single nucleotide variant Malignant melanoma [RCV000069774] Chr12:101678168 [GRCh38]
Chr12:102071946 [GRCh37]
Chr12:100596077 [NCBI36]
Chr12:12q23.2
not provided
NM_002465.3(MYBPC1):c.2280G>A (p.Thr760=) single nucleotide variant Malignant melanoma [RCV000062374] Chr12:101663484 [GRCh38]
Chr12:102057262 [GRCh37]
Chr12:100581393 [NCBI36]
Chr12:12q23.2
not provided
NM_002465.4(MYBPC1):c.1386A>T (p.Thr462=) single nucleotide variant Arthrogryposis, distal, type 1B [RCV000327273]|not provided [RCV001596967]|not specified [RCV000117653] Chr12:101651253 [GRCh38]
Chr12:102045031 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.1518C>G (p.His506Gln) single nucleotide variant Arthrogryposis, distal, type 1B [RCV000292201]|Lethal congenital contracture syndrome 4 [RCV001775586]|Myopathy, congenital, with tremor [RCV001775587]|not provided [RCV001668248]|not specified [RCV000117654] Chr12:101651385 [GRCh38]
Chr12:102045163 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.2010C>T (p.Tyr670=) single nucleotide variant Arthrogryposis, distal, type 1B [RCV001113584]|not provided [RCV000881388]|not specified [RCV000117655] Chr12:101661240 [GRCh38]
Chr12:102055018 [GRCh37]
Chr12:12q23.2
benign|likely benign
NM_002465.4(MYBPC1):c.2544T>C (p.Ile848=) single nucleotide variant Arthrogryposis, distal, type 1B [RCV000316999]|Lethal congenital contracture syndrome 4 [RCV001775588]|Myopathy, congenital, with tremor [RCV001775589]|not provided [RCV001689648]|not specified [RCV000117656] Chr12:101670340 [GRCh38]
Chr12:102064118 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.2817A>G (p.Pro939=) single nucleotide variant Arthrogryposis, distal, type 1B [RCV000332149]|Lethal congenital contracture syndrome 4 [RCV001775590]|Myopathy, congenital, with tremor [RCV001775591]|not provided [RCV001610415]|not specified [RCV000117657] Chr12:101675299 [GRCh38]
Chr12:102069077 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.556+10C>G single nucleotide variant Arthrogryposis, distal, type 1B [RCV000344457]|not provided [RCV001675622]|not specified [RCV000117658] Chr12:101632148 [GRCh38]
Chr12:102025926 [GRCh37]
Chr12:12q23.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_002465.4(MYBPC1):c.774C>T (p.Asp258=) single nucleotide variant Arthrogryposis, distal, type 1B [RCV000301296]|Lethal congenital contracture syndrome 4 [RCV001775592]|Myopathy, congenital, with tremor [RCV001775593]|not provided [RCV001668249]|not specified [RCV000117659] Chr12:101642527 [GRCh38]
Chr12:102036305 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.1633+34G>A single nucleotide variant not provided [RCV001565048] Chr12:101652818 [GRCh38]
Chr12:102046596 [GRCh37]
Chr12:12q23.2
likely benign
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33
pathogenic
GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3 copy number gain See cases [RCV000142447] Chr12:91044318..109133210 [GRCh38]
Chr12:91438095..109571015 [GRCh37]
Chr12:89962226..108055398 [NCBI36]
Chr12:12q21.33-24.11
pathogenic
NM_002465.4(MYBPC1):c.608+9A>G single nucleotide variant Arthrogryposis, distal, type 1B [RCV000312694]|not provided [RCV000950445]|not specified [RCV000192782] Chr12:101634614 [GRCh38]
Chr12:102028392 [GRCh37]
Chr12:12q23.2
benign|likely benign
NM_002465.4(MYBPC1):c.1946T>C (p.Val649Ala) single nucleotide variant not provided [RCV001481311]|not specified [RCV000193701] Chr12:101661176 [GRCh38]
Chr12:102054954 [GRCh37]
Chr12:12q23.2
likely benign
NM_002465.4(MYBPC1):c.594T>C (p.Ser198=) single nucleotide variant Arthrogryposis, distal, type 1B [RCV000405657]|not provided [RCV000957107]|not specified [RCV000194554] Chr12:101634591 [GRCh38]
Chr12:102028369 [GRCh37]
Chr12:12q23.2
benign|likely benign
NM_002465.4(MYBPC1):c.129C>T (p.Ser43=) single nucleotide variant Arthrogryposis, distal, type 1B [RCV001115102]|not provided [RCV000889086]|not specified [RCV000192525] Chr12:101626897 [GRCh38]
Chr12:102020675 [GRCh37]
Chr12:12q23.2
benign|likely benign|uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic|likely pathogenic
NM_002465.4(MYBPC1):c.2809+12T>C single nucleotide variant Arthrogryposis, distal, type 1B [RCV000295937]|not provided [RCV001668480]|not specified [RCV000243985] Chr12:101673634 [GRCh38]
Chr12:102067412 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.1634-18del deletion Arthrogryposis, distal, type 1B [RCV001775714]|Lethal congenital contracture syndrome 4 [RCV001775715]|Myopathy, congenital, with tremor [RCV001775716]|not provided [RCV001689835]|not specified [RCV000251369] Chr12:101653097 [GRCh38]
Chr12:102046875 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.420C>T (p.Thr140=) single nucleotide variant Arthrogryposis, distal, type 1B [RCV000322440]|not provided [RCV000964517]|not specified [RCV000253818] Chr12:101631701 [GRCh38]
Chr12:102025479 [GRCh37]
Chr12:12q23.2
benign|likely benign
NM_002465.4(MYBPC1):c.179-20_179-12del deletion not provided [RCV001640522]|not specified [RCV000241728] Chr12:101629408..101629416 [GRCh38]
Chr12:102023186..102023194 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.191T>C (p.Val64Ala) single nucleotide variant Arthrogryposis, distal, type 1B [RCV001115104]|not provided [RCV000965969]|not specified [RCV000246713] Chr12:101629446 [GRCh38]
Chr12:102023224 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.1928-19T>G single nucleotide variant not provided [RCV001558783]|not specified [RCV000251667] Chr12:101661139 [GRCh38]
Chr12:102054917 [GRCh37]
Chr12:12q23.2
benign|likely benign
NM_002465.4(MYBPC1):c.26-9C>T single nucleotide variant Arthrogryposis, distal, type 1B [RCV000395940]|not provided [RCV000963708]|not specified [RCV000251986] Chr12:101614487 [GRCh38]
Chr12:102008265 [GRCh37]
Chr12:12q23.2
benign|likely benign
NM_002465.4(MYBPC1):c.2320T>C (p.Leu774=) single nucleotide variant Arthrogryposis, distal, type 1B [RCV000265563]|not provided [RCV000883135] Chr12:101663524 [GRCh38]
Chr12:102057302 [GRCh37]
Chr12:12q23.2
benign|likely benign|uncertain significance
NM_002465.4(MYBPC1):c.-93C>T single nucleotide variant Arthrogryposis, distal, type 1B [RCV000269857]|not provided [RCV001559687] Chr12:101594978 [GRCh38]
Chr12:101988756 [GRCh37]
Chr12:12q23.2
benign|likely benign
NM_002465.4(MYBPC1):c.3402A>G (p.Thr1134=) single nucleotide variant Arthrogryposis, distal, type 1B [RCV000347155]|not provided [RCV001726104] Chr12:101680498 [GRCh38]
Chr12:102074276 [GRCh37]
Chr12:12q23.2
benign|likely benign
NM_002465.4(MYBPC1):c.2579T>C (p.Val860Ala) single nucleotide variant Arthrogryposis, distal, type 1B [RCV000371683] Chr12:101670375 [GRCh38]
Chr12:102064153 [GRCh37]
Chr12:12q23.2
uncertain significance
NM_002465.4(MYBPC1):c.556+9G>A single nucleotide variant Arthrogryposis, distal, type 1B [RCV000287180]|not provided [RCV000515008] Chr12:101632147 [GRCh38]
Chr12:102025925 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.608+14A>G single nucleotide variant Arthrogryposis, distal, type 1B [RCV000351138]|not provided [RCV001566226] Chr12:101634619 [GRCh38]
Chr12:102028397 [GRCh37]
Chr12:12q23.2
benign|likely benign
NM_002465.4(MYBPC1):c.*45C>T single nucleotide variant Arthrogryposis, distal, type 1B [RCV000288422]|not provided [RCV001563107] Chr12:101685607 [GRCh38]
Chr12:102079385 [GRCh37]
Chr12:12q23.2
benign|likely benign
NM_002465.4(MYBPC1):c.-13T>C single nucleotide variant Arthrogryposis, distal, type 1B [RCV000273808] Chr12:101595058 [GRCh38]
Chr12:101988836 [GRCh37]
Chr12:12q23.2
benign|likely benign
NM_002465.4(MYBPC1):c.675G>A (p.Lys225=) single nucleotide variant Arthrogryposis, distal, type 1B [RCV000354807] Chr12:101642428 [GRCh38]
Chr12:102036206 [GRCh37]
Chr12:12q23.2
uncertain significance
NM_002465.4(MYBPC1):c.2508C>T (p.Leu836=) single nucleotide variant Arthrogryposis, distal, type 1B [RCV000356713] Chr12:101667883 [GRCh38]
Chr12:102061661 [GRCh37]
Chr12:12q23.2
benign|uncertain significance
NM_002465.4(MYBPC1):c.2522T>C (p.Ile841Thr) single nucleotide variant Arthrogryposis, distal, type 1B [RCV000261907] Chr12:101667897 [GRCh38]
Chr12:102061675 [GRCh37]
Chr12:12q23.2
likely benign|uncertain significance
NM_002465.4(MYBPC1):c.1457C>A (p.Pro486Gln) single nucleotide variant Arthrogryposis, distal, type 1B [RCV000384150]|not provided [RCV001532212] Chr12:101651324 [GRCh38]
Chr12:102045102 [GRCh37]
Chr12:12q23.2
benign|likely benign
NM_002465.4(MYBPC1):c.2908A>C (p.Ile970Leu) single nucleotide variant Arthrogryposis, distal, type 1B [RCV000386487] Chr12:101675390 [GRCh38]
Chr12:102069168 [GRCh37]
Chr12:12q23.2
uncertain significance
NM_002465.4(MYBPC1):c.1651C>T (p.Leu551=) single nucleotide variant Arthrogryposis, distal, type 1B [RCV000388058] Chr12:101653132 [GRCh38]
Chr12:102046910 [GRCh37]
Chr12:12q23.2
benign|likely benign
NM_002465.4(MYBPC1):c.122C>T (p.Pro41Leu) single nucleotide variant Distal arthrogryposis [RCV000260436] Chr12:101626890 [GRCh38]
Chr12:102020668 [GRCh37]
Chr12:12q23.2
likely benign
NM_002465.4(MYBPC1):c.178+7G>A single nucleotide variant Arthrogryposis, distal, type 1B [RCV000317923] Chr12:101627811 [GRCh38]
Chr12:102021589 [GRCh37]
Chr12:12q23.2
benign|uncertain significance
NM_002465.4(MYBPC1):c.750C>A (p.Ile250=) single nucleotide variant Arthrogryposis, distal, type 1B [RCV000262547] Chr12:101642503 [GRCh38]
Chr12:102036281 [GRCh37]
Chr12:12q23.2
benign|likely benign
NM_002465.4(MYBPC1):c.*317C>A single nucleotide variant Arthrogryposis, distal, type 1B [RCV000300359] Chr12:101685879 [GRCh38]
Chr12:102079657 [GRCh37]
Chr12:12q23.2
benign|likely benign
NM_002465.4(MYBPC1):c.*78G>A single nucleotide variant Arthrogryposis, distal, type 1B [RCV000343360]|Lethal congenital contracture syndrome 4 [RCV001775762]|Myopathy, congenital, with tremor [RCV001775763]|not provided [RCV001541549]|not specified [RCV001529246] Chr12:101685640 [GRCh38]
Chr12:102079418 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.*19+3A>G single nucleotide variant Arthrogryposis, distal, type 1B [RCV000393683]|not provided [RCV001653509] Chr12:101684427 [GRCh38]
Chr12:102078205 [GRCh37]
Chr12:12q23.2
benign|likely benign
NM_002465.4(MYBPC1):c.-46C>T single nucleotide variant Arthrogryposis, distal, type 1B [RCV000365641] Chr12:101595025 [GRCh38]
Chr12:101988803 [GRCh37]
Chr12:12q23.2
benign|likely benign
NM_002465.4(MYBPC1):c.2124G>A (p.Lys708=) single nucleotide variant Arthrogryposis, distal, type 1B [RCV000393326] Chr12:101662449 [GRCh38]
Chr12:102056227 [GRCh37]
Chr12:12q23.2
likely benign|uncertain significance
NM_002465.4(MYBPC1):c.1250G>A (p.Arg417Lys) single nucleotide variant Arthrogryposis, distal, type 1B [RCV000324030] Chr12:101649313 [GRCh38]
Chr12:102043091 [GRCh37]
Chr12:12q23.2
benign|likely benign
NM_002465.4(MYBPC1):c.557-10C>T single nucleotide variant Arthrogryposis, distal, type 1B [RCV000348100] Chr12:101634544 [GRCh38]
Chr12:102028322 [GRCh37]
Chr12:12q23.2
benign|likely benign
NM_002465.4(MYBPC1):c.-75G>T single nucleotide variant Arthrogryposis, distal, type 1B [RCV000327360]|not provided [RCV001690016] Chr12:101594996 [GRCh38]
Chr12:101988774 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.1553C>T (p.Ala518Val) single nucleotide variant Arthrogryposis, distal, type 1B [RCV000349522] Chr12:101652704 [GRCh38]
Chr12:102046482 [GRCh37]
Chr12:12q23.2
likely benign|uncertain significance
NM_002465.4(MYBPC1):c.192C>T (p.Val64=) single nucleotide variant Arthrogryposis, distal, type 1B [RCV000374995]|not provided [RCV000962275] Chr12:101629447 [GRCh38]
Chr12:102023225 [GRCh37]
Chr12:12q23.2
benign|likely benign|uncertain significance
NM_002465.4(MYBPC1):c.309A>T (p.Ile103=) single nucleotide variant Arthrogryposis, distal, type 1B [RCV000264050] Chr12:101631590 [GRCh38]
Chr12:102025368 [GRCh37]
Chr12:12q23.2
uncertain significance
NM_002465.4(MYBPC1):c.17A>T (p.Lys6Met) single nucleotide variant Arthrogryposis, distal, type 1B [RCV000331231] Chr12:101595087 [GRCh38]
Chr12:101988865 [GRCh37]
Chr12:12q23.2
benign|likely benign
NM_002465.4(MYBPC1):c.438+9C>G single nucleotide variant Arthrogryposis, distal, type 1B [RCV000379400]|not provided [RCV000886866] Chr12:101631728 [GRCh38]
Chr12:102025506 [GRCh37]
Chr12:12q23.2
benign|likely benign
NM_002465.4(MYBPC1):c.2013C>T (p.Asp671=) single nucleotide variant Arthrogryposis, distal, type 1B [RCV000360434]|not provided [RCV000924064] Chr12:101661243 [GRCh38]
Chr12:102055021 [GRCh37]
Chr12:12q23.2
benign|likely benign
NM_002465.4(MYBPC1):c.2810-285C>T single nucleotide variant not provided [RCV001547574] Chr12:101675007 [GRCh38]
Chr12:102068785 [GRCh37]
Chr12:12q23.2
likely benign
NM_002465.4(MYBPC1):c.*246dup duplication Distal arthrogryposis [RCV000303624] Chr12:101685806..101685807 [GRCh38]
Chr12:102079584..102079585 [GRCh37]
Chr12:12q23.2
uncertain significance
NM_002465.4(MYBPC1):c.3262A>T (p.Met1088Leu) single nucleotide variant Arthrogryposis, distal, type 1B [RCV000292192] Chr12:101680358 [GRCh38]
Chr12:102074136 [GRCh37]
Chr12:12q23.2
uncertain significance
NM_002465.4(MYBPC1):c.*277T>C single nucleotide variant Arthrogryposis, distal, type 1B [RCV000402459] Chr12:101685839 [GRCh38]
Chr12:102079617 [GRCh37]
Chr12:12q23.2
uncertain significance
NM_002465.4(MYBPC1):c.*144C>G single nucleotide variant Arthrogryposis, distal, type 1B [RCV000402705] Chr12:101685706 [GRCh38]
Chr12:102079484 [GRCh37]
Chr12:12q23.2
uncertain significance
NM_002465.4(MYBPC1):c.2439C>T (p.Ile813=) single nucleotide variant Arthrogryposis, distal, type 1B [RCV000320636] Chr12:101667814 [GRCh38]
Chr12:102061592 [GRCh37]
Chr12:12q23.2
uncertain significance
NM_002465.4(MYBPC1):c.1703T>C (p.Leu568Pro) single nucleotide variant Arthrogryposis, distal, type 1B [RCV000296018] Chr12:101653184 [GRCh38]
Chr12:102046962 [GRCh37]
Chr12:12q23.2
uncertain significance
NM_002465.4(MYBPC1):c.51_56del (p.Pro18_Pro19del) deletion Distal arthrogryposis [RCV000311233] Chr12:101614517..101614522 [GRCh38]
Chr12:102008295..102008300 [GRCh37]
Chr12:12q23.2
uncertain significance
NM_002465.4(MYBPC1):c.*266dup duplication Distal arthrogryposis [RCV000358607] Chr12:101685827..101685828 [GRCh38]
Chr12:102079605..102079606 [GRCh37]
Chr12:12q23.2
uncertain significance
NM_002465.4(MYBPC1):c.742G>A (p.Glu248Lys) single nucleotide variant Myopathy, congenital, with tremor [RCV000850132]|not provided [RCV000408887] Chr12:101642495 [GRCh38]
Chr12:102036273 [GRCh37]
Chr12:12q23.2
pathogenic
NM_002465.4(MYBPC1):c.3224G>A (p.Cys1075Tyr) single nucleotide variant Arthrogryposis, distal, type 1B [RCV000723277] Chr12:101678216 [GRCh38]
Chr12:102071994 [GRCh37]
Chr12:12q23.2
uncertain significance
NM_002465.4(MYBPC1):c.1493A>G (p.Glu498Gly) single nucleotide variant not specified [RCV000414023] Chr12:101651360 [GRCh38]
Chr12:102045138 [GRCh37]
Chr12:12q23.2
uncertain significance
GRCh37/hg19 12q23.1-23.3(chr12:100580198-105804075)x3 copy number gain See cases [RCV000445929] Chr12:100580198..105804075 [GRCh37]
Chr12:12q23.1-23.3
uncertain significance
NM_002465.4(MYBPC1):c.1253T>G (p.Val418Gly) single nucleotide variant not provided [RCV000486652] Chr12:101649316 [GRCh38]
Chr12:102043094 [GRCh37]
Chr12:12q23.2
likely pathogenic
NM_002465.4(MYBPC1):c.103+5G>T single nucleotide variant not specified [RCV000499514] Chr12:101617248 [GRCh38]
Chr12:102011026 [GRCh37]
Chr12:12q23.2
uncertain significance
NM_002465.4(MYBPC1):c.2510T>G (p.Val837Gly) single nucleotide variant not specified [RCV000499644] Chr12:101667885 [GRCh38]
Chr12:102061663 [GRCh37]
Chr12:12q23.2
uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
NM_002465.4(MYBPC1):c.1365G>A (p.Leu455=) single nucleotide variant not specified [RCV000503055] Chr12:101651232 [GRCh38]
Chr12:102045010 [GRCh37]
Chr12:12q23.2
likely benign
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
NM_002465.4(MYBPC1):c.1363+18A>G single nucleotide variant not provided [RCV000514968] Chr12:101649444 [GRCh38]
Chr12:102043222 [GRCh37]
Chr12:12q23.2
likely benign
NM_002465.4(MYBPC1):c.1678G>C (p.Val560Leu) single nucleotide variant Distal arthrogryposis [RCV000626822] Chr12:101653159 [GRCh38]
Chr12:102046937 [GRCh37]
Chr12:12q23.2
likely pathogenic
NM_002465.4(MYBPC1):c.776T>C (p.Leu259Pro) single nucleotide variant MYBPC1-related condition [RCV000626001]|Myopathy, congenital, with tremor [RCV000850131]|not provided [RCV001731818] Chr12:101642529 [GRCh38]
Chr12:102036307 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic
NM_002465.4(MYBPC1):c.2572C>T (p.Arg858Cys) single nucleotide variant Inborn genetic diseases [RCV000624576] Chr12:101670368 [GRCh38]
Chr12:102064146 [GRCh37]
Chr12:12q23.2
uncertain significance
NM_002465.4(MYBPC1):c.2357-695T>A single nucleotide variant not provided [RCV001546986] Chr12:101667037 [GRCh38]
Chr12:102060815 [GRCh37]
Chr12:12q23.2
likely benign
NM_002465.4(MYBPC1):c.2357-802_2357-799del deletion not provided [RCV001546121] Chr12:101666927..101666930 [GRCh38]
Chr12:102060705..102060708 [GRCh37]
Chr12:12q23.2
likely benign
NM_002465.4(MYBPC1):c.3433+50G>T single nucleotide variant not provided [RCV001571411] Chr12:101680579 [GRCh38]
Chr12:102074357 [GRCh37]
Chr12:12q23.2
likely benign
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12q22-23.2(chr12:94881995-103635998)x3 copy number gain not provided [RCV000750524] Chr12:94881995..103635998 [GRCh37]
Chr12:12q22-23.2
pathogenic
NM_002465.4(MYBPC1):c.1487T>C (p.Val496Ala) single nucleotide variant not provided [RCV001532213] Chr12:101651354 [GRCh38]
Chr12:102045132 [GRCh37]
Chr12:12q23.2
uncertain significance
NM_002465.4(MYBPC1):c.1364-97C>T single nucleotide variant not provided [RCV001691000] Chr12:101651134 [GRCh38]
Chr12:102044912 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.2357-655C>T single nucleotide variant not provided [RCV001610982] Chr12:101667077 [GRCh38]
Chr12:102060855 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.965+53A>G single nucleotide variant not provided [RCV001611086] Chr12:101644849 [GRCh38]
Chr12:102038627 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.2525-41C>T single nucleotide variant not provided [RCV001609603] Chr12:101670280 [GRCh38]
Chr12:102064058 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.1927+66C>T single nucleotide variant not provided [RCV001644266] Chr12:101659897 [GRCh38]
Chr12:102053675 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.3493-66G>C single nucleotide variant not provided [RCV001708813] Chr12:101684316 [GRCh38]
Chr12:102078094 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.3246+158C>T single nucleotide variant not provided [RCV001534683] Chr12:101678396 [GRCh38]
Chr12:102072174 [GRCh37]
Chr12:12q23.2
likely benign
NM_002465.4(MYBPC1):c.143-87del deletion not provided [RCV001534796] Chr12:101627682 [GRCh38]
Chr12:102021460 [GRCh37]
Chr12:12q23.2
likely benign
NM_002465.4(MYBPC1):c.1242C>A (p.Tyr414Ter) single nucleotide variant not provided [RCV000760917] Chr12:101649305 [GRCh38]
Chr12:102043083 [GRCh37]
Chr12:12q23.2
likely pathogenic
NM_002465.4(MYBPC1):c.1928-326G>A single nucleotide variant not provided [RCV001610085] Chr12:101660832 [GRCh38]
Chr12:102054610 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.966-143C>T single nucleotide variant not provided [RCV001572566] Chr12:101646620 [GRCh38]
Chr12:102040398 [GRCh37]
Chr12:12q23.2
likely benign
NM_002465.4(MYBPC1):c.62-165T>C single nucleotide variant not provided [RCV001641574] Chr12:101617037 [GRCh38]
Chr12:102010815 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.179-328T>C single nucleotide variant not provided [RCV001552222] Chr12:101629106 [GRCh38]
Chr12:102022884 [GRCh37]
Chr12:12q23.2
likely benign
NM_002465.4(MYBPC1):c.1363+297T>C single nucleotide variant not provided [RCV001567564] Chr12:101649723 [GRCh38]
Chr12:102043501 [GRCh37]
Chr12:12q23.2
likely benign
NM_002465.4(MYBPC1):c.2357-1295_2357-1293del microsatellite not provided [RCV001575097] Chr12:101666433..101666435 [GRCh38]
Chr12:102060211..102060213 [GRCh37]
Chr12:12q23.2
likely benign
NM_002465.4(MYBPC1):c.966-314A>G single nucleotide variant not provided [RCV001644152] Chr12:101646449 [GRCh38]
Chr12:102040227 [GRCh37]
Chr12:12q23.2
benign
Single allele single nucleotide variant not provided [RCV001724662] Chr12:101594747 [GRCh38]
Chr12:101988525 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.2949+289A>C single nucleotide variant not provided [RCV001568955] Chr12:101675720 [GRCh38]
Chr12:102069498 [GRCh37]
Chr12:12q23.2
likely benign
NM_002465.4(MYBPC1):c.665+8C>T single nucleotide variant not provided [RCV000941913] Chr12:101636736 [GRCh38]
Chr12:102030514 [GRCh37]
Chr12:12q23.2
likely benign|conflicting interpretations of pathogenicity
NM_002465.4(MYBPC1):c.1363+9G>T single nucleotide variant not provided [RCV000923751] Chr12:101649435 [GRCh38]
Chr12:102043213 [GRCh37]
Chr12:12q23.2
likely benign
NM_002465.4(MYBPC1):c.84C>T (p.Ala28=) single nucleotide variant not provided [RCV000896930] Chr12:101617224 [GRCh38]
Chr12:102011002 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.665+8C>A single nucleotide variant not provided [RCV000910382] Chr12:101636736 [GRCh38]
Chr12:102030514 [GRCh37]
Chr12:12q23.2
likely benign
NM_002465.4(MYBPC1):c.665+9A>C single nucleotide variant not provided [RCV000910396] Chr12:101636737 [GRCh38]
Chr12:102030515 [GRCh37]
Chr12:12q23.2
likely benign
NM_002465.4(MYBPC1):c.759G>A (p.Gln253=) single nucleotide variant not provided [RCV000905733] Chr12:101642512 [GRCh38]
Chr12:102036290 [GRCh37]
Chr12:12q23.2
likely benign
NM_002465.4(MYBPC1):c.524T>C (p.Phe175Ser) single nucleotide variant not provided [RCV000895808] Chr12:101632106 [GRCh38]
Chr12:102025884 [GRCh37]
Chr12:12q23.2
likely benign
NM_002465.4(MYBPC1):c.788T>G (p.Leu263Arg) single nucleotide variant Inborn genetic diseases [RCV001267435]|MYBPC1-related condition [RCV000786058]|Myopathy, congenital, with tremor [RCV000850130]|not provided [RCV001069014] Chr12:101642541 [GRCh38]
Chr12:102036319 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic
GRCh37/hg19 12q23.2(chr12:101953283-102683945)x1 copy number loss not provided [RCV001006527] Chr12:101953283..102683945 [GRCh37]
Chr12:12q23.2
uncertain significance
GRCh37/hg19 12q23.1-23.2(chr12:101447925-102593349)x3 copy number gain not provided [RCV000847334] Chr12:101447925..102593349 [GRCh37]
Chr12:12q23.1-23.2
uncertain significance
NM_002465.4(MYBPC1):c.1399C>G (p.Gln467Glu) single nucleotide variant Arthrogryposis, distal, type 1B [RCV001112231] Chr12:101651266 [GRCh38]
Chr12:102045044 [GRCh37]
Chr12:12q23.2
likely benign
NM_002465.4(MYBPC1):c.739T>C (p.Tyr247His) single nucleotide variant Myopathy, congenital, with tremor [RCV000850133] Chr12:101642492 [GRCh38]
Chr12:102036270 [GRCh37]
Chr12:12q23.2
pathogenic
NM_002465.4(MYBPC1):c.1237A>G (p.Arg413Gly) single nucleotide variant Arthrogryposis, distal, type 1B [RCV001112230] Chr12:101649300 [GRCh38]
Chr12:102043078 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.1225G>A (p.Gly409Ser) single nucleotide variant not provided [RCV001171892] Chr12:101649288 [GRCh38]
Chr12:102043066 [GRCh37]
Chr12:12q23.2
uncertain significance
NM_002465.4(MYBPC1):c.2776G>A (p.Val926Met) single nucleotide variant Arthrogryposis, distal, type 1B [RCV001111855] Chr12:101673589 [GRCh38]
Chr12:102067367 [GRCh37]
Chr12:12q23.2
uncertain significance
NM_002465.4(MYBPC1):c.*169G>T single nucleotide variant Arthrogryposis, distal, type 1B [RCV001113667]|not provided [RCV001585985] Chr12:101685731 [GRCh38]
Chr12:102079509 [GRCh37]
Chr12:12q23.2
benign|likely benign
NM_002465.4(MYBPC1):c.104-10C>A single nucleotide variant Arthrogryposis, distal, type 1B [RCV001115101] Chr12:101626862 [GRCh38]
Chr12:102020640 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.557-289T>C single nucleotide variant not provided [RCV001564442] Chr12:101634265 [GRCh38]
Chr12:102028043 [GRCh37]
Chr12:12q23.2
likely benign
NM_002465.4(MYBPC1):c.25+49T>C single nucleotide variant not provided [RCV001572535] Chr12:101595144 [GRCh38]
Chr12:101988922 [GRCh37]
Chr12:12q23.2
likely benign
NM_002465.4(MYBPC1):c.2614-160T>A single nucleotide variant not provided [RCV001572587] Chr12:101673267 [GRCh38]
Chr12:102067045 [GRCh37]
Chr12:12q23.2
likely benign
NM_002465.4(MYBPC1):c.1527-59G>C single nucleotide variant not provided [RCV001546484] Chr12:101652619 [GRCh38]
Chr12:102046397 [GRCh37]
Chr12:12q23.2
likely benign
NM_002465.4(MYBPC1):c.26-192A>G single nucleotide variant not provided [RCV001569908] Chr12:101614304 [GRCh38]
Chr12:102008082 [GRCh37]
Chr12:12q23.2
likely benign
NM_002465.4(MYBPC1):c.288del (p.Gly97fs) deletion Arthrogryposis, distal, type 1B [RCV001614462] Chr12:101629542 [GRCh38]
Chr12:102023320 [GRCh37]
Chr12:12q23.2
uncertain significance
NM_002465.4(MYBPC1):c.2525-197CA[19] microsatellite not provided [RCV001671080] Chr12:101670123..101670124 [GRCh38]
Chr12:102063901..102063902 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.2613+210T>C single nucleotide variant not provided [RCV001695204] Chr12:101670619 [GRCh38]
Chr12:102064397 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.1196+285C>G single nucleotide variant not provided [RCV001638598] Chr12:101648435 [GRCh38]
Chr12:102042213 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.3247-195G>A single nucleotide variant not provided [RCV001652756] Chr12:101680148 [GRCh38]
Chr12:102073926 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.2809+283T>G single nucleotide variant not provided [RCV001575835] Chr12:101673905 [GRCh38]
Chr12:102067683 [GRCh37]
Chr12:12q23.2
likely benign
NM_002465.4(MYBPC1):c.1196+182C>T single nucleotide variant not provided [RCV001659463] Chr12:101648332 [GRCh38]
Chr12:102042110 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.1527-152CT[9] microsatellite not provided [RCV001617760] Chr12:101652526..101652527 [GRCh38]
Chr12:102046304..102046305 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.1197-231C>T single nucleotide variant not provided [RCV001668016] Chr12:101649029 [GRCh38]
Chr12:102042807 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.1197-144C>T single nucleotide variant not provided [RCV001549971] Chr12:101649116 [GRCh38]
Chr12:102042894 [GRCh37]
Chr12:12q23.2
likely benign
NM_002465.4(MYBPC1):c.1633+114T>C single nucleotide variant not provided [RCV001598440] Chr12:101652898 [GRCh38]
Chr12:102046676 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.3109+118T>G single nucleotide variant not provided [RCV001720383] Chr12:101677512 [GRCh38]
Chr12:102071290 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.289+260C>T single nucleotide variant not provided [RCV001561275] Chr12:101629804 [GRCh38]
Chr12:102023582 [GRCh37]
Chr12:12q23.2
likely benign
NM_002465.4(MYBPC1):c.2524+293C>A single nucleotide variant not provided [RCV001671774] Chr12:101668192 [GRCh38]
Chr12:102061970 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.1927+144C>G single nucleotide variant not provided [RCV001695571] Chr12:101659975 [GRCh38]
Chr12:102053753 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.3434-183G>A single nucleotide variant not provided [RCV001598018] Chr12:101682421 [GRCh38]
Chr12:102076199 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.2949+209C>T single nucleotide variant not provided [RCV001598866] Chr12:101675640 [GRCh38]
Chr12:102069418 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.*265dup duplication not provided [RCV001707166] Chr12:101685811..101685812 [GRCh38]
Chr12:102079589..102079590 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.1527-152CT[12] microsatellite not provided [RCV001556374] Chr12:101652525..101652526 [GRCh38]
Chr12:102046303..102046304 [GRCh37]
Chr12:12q23.2
likely benign
NM_002465.4(MYBPC1):c.104-61C>T single nucleotide variant not provided [RCV001556416] Chr12:101626811 [GRCh38]
Chr12:102020589 [GRCh37]
Chr12:12q23.2
likely benign
NM_002465.4(MYBPC1):c.2357-838_2357-837del deletion not provided [RCV001639220] Chr12:101666893..101666894 [GRCh38]
Chr12:102060671..102060672 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.2525-197CA[21] microsatellite not provided [RCV001562162] Chr12:101670123..101670124 [GRCh38]
Chr12:102063901..102063902 [GRCh37]
Chr12:12q23.2
likely benign
NM_002465.4(MYBPC1):c.2222-203C>A single nucleotide variant not provided [RCV001639745] Chr12:101663223 [GRCh38]
Chr12:102057001 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.2356+89G>A single nucleotide variant not provided [RCV001589494] Chr12:101663649 [GRCh38]
Chr12:102057427 [GRCh37]
Chr12:12q23.2
likely benign
NM_002465.4(MYBPC1):c.2033-29A>T single nucleotide variant not provided [RCV001614222] Chr12:101662329 [GRCh38]
Chr12:102056107 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.556+148T>C single nucleotide variant not provided [RCV001613817] Chr12:101632286 [GRCh38]
Chr12:102026064 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.289+342del deletion not provided [RCV001567890] Chr12:101629874 [GRCh38]
Chr12:102023652 [GRCh37]
Chr12:12q23.2
likely benign
NM_002465.4(MYBPC1):c.3433+272T>C single nucleotide variant not provided [RCV001643737] Chr12:101680801 [GRCh38]
Chr12:102074579 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.1526+78G>A single nucleotide variant not provided [RCV001665176] Chr12:101651471 [GRCh38]
Chr12:102045249 [GRCh37]
Chr12:12q23.2
likely benign
NM_002465.4(MYBPC1):c.2357-834C>T single nucleotide variant not provided [RCV001715191] Chr12:101666898 [GRCh38]
Chr12:102060676 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.2221+61C>G single nucleotide variant not provided [RCV001714131] Chr12:101662607 [GRCh38]
Chr12:102056385 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.3433+209G>A single nucleotide variant not provided [RCV001549484] Chr12:101680738 [GRCh38]
Chr12:102074516 [GRCh37]
Chr12:12q23.2
likely benign
NM_002465.4(MYBPC1):c.1363+202G>A single nucleotide variant not provided [RCV001656863] Chr12:101649628 [GRCh38]
Chr12:102043406 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.*264_*265dup duplication not provided [RCV001552456] Chr12:101685811..101685812 [GRCh38]
Chr12:102079589..102079590 [GRCh37]
Chr12:12q23.2
likely benign
NM_002465.4(MYBPC1):c.26-57del deletion not provided [RCV001694897] Chr12:101614439 [GRCh38]
Chr12:102008217 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.1526+127C>T single nucleotide variant not provided [RCV001657134] Chr12:101651520 [GRCh38]
Chr12:102045298 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.1526+6C>T single nucleotide variant not provided [RCV000914926] Chr12:101651399 [GRCh38]
Chr12:102045177 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.1148G>C (p.Arg383Thr) single nucleotide variant Arthrogryposis, distal, type 1B [RCV001111778] Chr12:101648102 [GRCh38]
Chr12:102041880 [GRCh37]
Chr12:12q23.2
uncertain significance
NM_002465.4(MYBPC1):c.2539C>T (p.Arg847Cys) single nucleotide variant Arthrogryposis, distal, type 1B [RCV001111854] Chr12:101670335 [GRCh38]
Chr12:102064113 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.1234T>C (p.Ser412Pro) single nucleotide variant Arthrogryposis, distal, type 1B [RCV001112229] Chr12:101649297 [GRCh38]
Chr12:102043075 [GRCh37]
Chr12:12q23.2
uncertain significance
NM_002465.4(MYBPC1):c.3405G>T (p.Val1135=) single nucleotide variant Arthrogryposis, distal, type 1B [RCV001112318] Chr12:101680501 [GRCh38]
Chr12:102074279 [GRCh37]
Chr12:12q23.2
likely benign
NM_002465.4(MYBPC1):c.142+10A>T single nucleotide variant Arthrogryposis, distal, type 1B [RCV001115103] Chr12:101626920 [GRCh38]
Chr12:102020698 [GRCh37]
Chr12:12q23.2
uncertain significance
NM_002465.4(MYBPC1):c.2357-839_2357-838insCACA microsatellite not provided [RCV001597600] Chr12:101666890..101666891 [GRCh38]
Chr12:102060668..102060669 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.2356+197G>C single nucleotide variant not provided [RCV001562278] Chr12:101663757 [GRCh38]
Chr12:102057535 [GRCh37]
Chr12:12q23.2
likely benign
NM_002465.4(MYBPC1):c.3246+233A>T single nucleotide variant not provided [RCV001577614] Chr12:101678471 [GRCh38]
Chr12:102072249 [GRCh37]
Chr12:12q23.2
likely benign
NM_002465.4(MYBPC1):c.2809+217G>A single nucleotide variant not provided [RCV001557470] Chr12:101673839 [GRCh38]
Chr12:102067617 [GRCh37]
Chr12:12q23.2
likely benign
NM_002465.4(MYBPC1):c.62-294G>T single nucleotide variant not provided [RCV001549325] Chr12:101616908 [GRCh38]
Chr12:102010686 [GRCh37]
Chr12:12q23.2
likely benign
NM_002465.4(MYBPC1):c.1352T>C (p.Leu451Pro) single nucleotide variant not provided [RCV000994963] Chr12:101649415 [GRCh38]
Chr12:102043193 [GRCh37]
Chr12:12q23.2
uncertain significance
NM_002465.4(MYBPC1):c.103+296G>T single nucleotide variant not provided [RCV001593763] Chr12:101617539 [GRCh38]
Chr12:102011317 [GRCh37]
Chr12:12q23.2
likely benign
NM_002465.4(MYBPC1):c.1363+145T>A single nucleotide variant not provided [RCV001621796] Chr12:101649571 [GRCh38]
Chr12:102043349 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.1928-93A>G single nucleotide variant not provided [RCV001717879] Chr12:101661065 [GRCh38]
Chr12:102054843 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.103+242C>T single nucleotide variant not provided [RCV001560305] Chr12:101617485 [GRCh38]
Chr12:102011263 [GRCh37]
Chr12:12q23.2
likely benign
NM_002465.4(MYBPC1):c.1090+202A>T single nucleotide variant not provided [RCV001658939] Chr12:101647089 [GRCh38]
Chr12:102040867 [GRCh37]
Chr12:12q23.2
likely benign
NM_002465.4(MYBPC1):c.608+211G>A single nucleotide variant not provided [RCV001593365] Chr12:101634816 [GRCh38]
Chr12:102028594 [GRCh37]
Chr12:12q23.2
likely benign
NM_002465.4(MYBPC1):c.966-123A>G single nucleotide variant not provided [RCV001619581] Chr12:101646640 [GRCh38]
Chr12:102040418 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.2950-258A>C single nucleotide variant not provided [RCV001595528] Chr12:101676977 [GRCh38]
Chr12:102070755 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.965+32T>C single nucleotide variant not provided [RCV001677258] Chr12:101644828 [GRCh38]
Chr12:102038606 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.1197-48dup duplication not provided [RCV001597692] Chr12:101649207..101649208 [GRCh38]
Chr12:102042985..102042986 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.1927+70C>T single nucleotide variant not provided [RCV001593531] Chr12:101659901 [GRCh38]
Chr12:102053679 [GRCh37]
Chr12:12q23.2
likely benign
NM_002465.4(MYBPC1):c.104-204T>C single nucleotide variant not provided [RCV001537084] Chr12:101626668 [GRCh38]
Chr12:102020446 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.1527-285C>T single nucleotide variant not provided [RCV001639187] Chr12:101652393 [GRCh38]
Chr12:102046171 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.666-61C>T single nucleotide variant not provided [RCV001608483] Chr12:101642358 [GRCh38]
Chr12:102036136 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.1090+294T>C single nucleotide variant not provided [RCV001696372] Chr12:101647181 [GRCh38]
Chr12:102040959 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.1091-66A>G single nucleotide variant not provided [RCV001672366] Chr12:101647979 [GRCh38]
Chr12:102041757 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.1527-152CT[11] microsatellite not provided [RCV001675207] Chr12:101652525..101652526 [GRCh38]
Chr12:102046303..102046304 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.1526+204A>C single nucleotide variant not provided [RCV001581817] Chr12:101651597 [GRCh38]
Chr12:102045375 [GRCh37]
Chr12:12q23.2
likely benign
NM_002465.4(MYBPC1):c.2357-801AC[7] microsatellite not provided [RCV001641644] Chr12:101666930..101666931 [GRCh38]
Chr12:102060708..102060709 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.966-287T>C single nucleotide variant not provided [RCV001663235] Chr12:101646476 [GRCh38]
Chr12:102040254 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.26-171_26-166del deletion not provided [RCV001616533] Chr12:101614324..101614329 [GRCh38]
Chr12:102008102..102008107 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.1927+146T>C single nucleotide variant not provided [RCV001656141] Chr12:101659977 [GRCh38]
Chr12:102053755 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.3433+135A>G single nucleotide variant not provided [RCV001677506] Chr12:101680664 [GRCh38]
Chr12:102074442 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.2524+198A>C single nucleotide variant not provided [RCV001641944] Chr12:101668097 [GRCh38]
Chr12:102061875 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.966-194G>A single nucleotide variant not provided [RCV001686525] Chr12:101646569 [GRCh38]
Chr12:102040347 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.2033-93del deletion not provided [RCV001658994] Chr12:101662265 [GRCh38]
Chr12:102056043 [GRCh37]
Chr12:12q23.2
likely benign
NM_002465.4(MYBPC1):c.1363+97G>A single nucleotide variant not provided [RCV001637875] Chr12:101649523 [GRCh38]
Chr12:102043301 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.832+105G>A single nucleotide variant not provided [RCV001658839] Chr12:101642690 [GRCh38]
Chr12:102036468 [GRCh37]
Chr12:12q23.2
likely benign
NM_002465.4(MYBPC1):c.2524+126_2524+133del microsatellite not provided [RCV001670984] Chr12:101668016..101668023 [GRCh38]
Chr12:102061794..102061801 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.2613+197A>G single nucleotide variant not provided [RCV001678303] Chr12:101670606 [GRCh38]
Chr12:102064384 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.1527-62C>T single nucleotide variant not provided [RCV001649710] Chr12:101652616 [GRCh38]
Chr12:102046394 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.289+70del deletion not provided [RCV001654623] Chr12:101629614 [GRCh38]
Chr12:102023392 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.1526+60C>T single nucleotide variant not provided [RCV001687612] Chr12:101651453 [GRCh38]
Chr12:102045231 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.1363+61C>T single nucleotide variant not provided [RCV001720382] Chr12:101649487 [GRCh38]
Chr12:102043265 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.2525-197CA[20] microsatellite not provided [RCV001638532] Chr12:101670123..101670124 [GRCh38]
Chr12:102063901..102063902 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.2033-9T>A single nucleotide variant Arthrogryposis, distal, type 1B [RCV001109577] Chr12:101662349 [GRCh38]
Chr12:102056127 [GRCh37]
Chr12:12q23.2
uncertain significance
NM_002465.4(MYBPC1):c.2271G>A (p.Thr757=) single nucleotide variant Arthrogryposis, distal, type 1B [RCV001109579] Chr12:101663475 [GRCh38]
Chr12:102057253 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.2153G>A (p.Arg718His) single nucleotide variant Arthrogryposis, distal, type 1B [RCV001109578] Chr12:101662478 [GRCh38]
Chr12:102056256 [GRCh37]
Chr12:12q23.2
uncertain significance
NM_002465.4(MYBPC1):c.2303A>T (p.His768Leu) single nucleotide variant Arthrogryposis, distal, type 1B [RCV001109580] Chr12:101663507 [GRCh38]
Chr12:102057285 [GRCh37]
Chr12:12q23.2
uncertain significance
NM_002465.4(MYBPC1):c.142+122G>A single nucleotide variant not provided [RCV001645767] Chr12:101627032 [GRCh38]
Chr12:102020810 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.289+73_289+88del deletion not provided [RCV001671091] Chr12:101629617..101629632 [GRCh38]
Chr12:102023395..102023410 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.3110-161G>A single nucleotide variant not provided [RCV001696062] Chr12:101677941 [GRCh38]
Chr12:102071719 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.2950-142A>T single nucleotide variant not provided [RCV001707379] Chr12:101677093 [GRCh38]
Chr12:102070871 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.1363+247A>G single nucleotide variant not provided [RCV001647767] Chr12:101649673 [GRCh38]
Chr12:102043451 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.1633+33T>C single nucleotide variant Arthrogryposis, distal, type 1B [RCV001776291]|Lethal congenital contracture syndrome 4 [RCV001776292]|Myopathy, congenital, with tremor [RCV001776293]|not provided [RCV001694659] Chr12:101652817 [GRCh38]
Chr12:102046595 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.2357-1135G>A single nucleotide variant not provided [RCV001665995] Chr12:101666597 [GRCh38]
Chr12:102060375 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.1928-57T>C single nucleotide variant not provided [RCV001667033] Chr12:101661101 [GRCh38]
Chr12:102054879 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.289+83C>T single nucleotide variant not provided [RCV001710656] Chr12:101629627 [GRCh38]
Chr12:102023405 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.608+111T>C single nucleotide variant not provided [RCV001583441] Chr12:101634716 [GRCh38]
Chr12:102028494 [GRCh37]
Chr12:12q23.2
likely benign
NM_002465.4(MYBPC1):c.62-227G>A single nucleotide variant not provided [RCV001584851] Chr12:101616975 [GRCh38]
Chr12:102010753 [GRCh37]
Chr12:12q23.2
likely benign
NM_002465.4(MYBPC1):c.3433+114G>T single nucleotide variant not provided [RCV001644410] Chr12:101680643 [GRCh38]
Chr12:102074421 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.665+197G>A single nucleotide variant not provided [RCV001585504] Chr12:101636925 [GRCh38]
Chr12:102030703 [GRCh37]
Chr12:12q23.2
likely benign
NM_002465.4(MYBPC1):c.26-171T>A single nucleotide variant not provided [RCV001662953] Chr12:101614325 [GRCh38]
Chr12:102008103 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.25+127C>T single nucleotide variant not provided [RCV001584879] Chr12:101595222 [GRCh38]
Chr12:101989000 [GRCh37]
Chr12:12q23.2
likely benign
NM_002465.4(MYBPC1):c.437G>A (p.Arg146Gln) single nucleotide variant not provided [RCV001583244] Chr12:101631718 [GRCh38]
Chr12:102025496 [GRCh37]
Chr12:12q23.2
uncertain significance
NM_002465.4(MYBPC1):c.3492+39C>T single nucleotide variant Arthrogryposis, distal, type 1B [RCV001776286]|Lethal congenital contracture syndrome 4 [RCV001776287]|Myopathy, congenital, with tremor [RCV001776288]|not provided [RCV001690225] Chr12:101682701 [GRCh38]
Chr12:102076479 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.1928-185G>A single nucleotide variant not provided [RCV001610264] Chr12:101660973 [GRCh38]
Chr12:102054751 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.2525-197CA[15] microsatellite not provided [RCV001681383] Chr12:101670124..101670125 [GRCh38]
Chr12:102063902..102063903 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.2357-802T>C single nucleotide variant not provided [RCV001650593] Chr12:101666930 [GRCh38]
Chr12:102060708 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.3013G>A (p.Gly1005Arg) single nucleotide variant Arthrogryposis, distal, type 1B [RCV001112317] Chr12:101677298 [GRCh38]
Chr12:102071076 [GRCh37]
Chr12:12q23.2
uncertain significance
NM_002465.4(MYBPC1):c.2525-197CA[18] microsatellite not provided [RCV001668957] Chr12:101670123..101670124 [GRCh38]
Chr12:102063901..102063902 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.2810-123A>G single nucleotide variant not provided [RCV001665415] Chr12:101675169 [GRCh38]
Chr12:102068947 [GRCh37]
Chr12:12q23.2
likely benign
NM_002465.4(MYBPC1):c.104-162A>T single nucleotide variant not provided [RCV001684794] Chr12:101626710 [GRCh38]
Chr12:102020488 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.2785G>A (p.Ala929Thr) single nucleotide variant Arthrogryposis, distal, type 1B [RCV001111856] Chr12:101673598 [GRCh38]
Chr12:102067376 [GRCh37]
Chr12:12q23.2
uncertain significance
NM_002465.4(MYBPC1):c.32A>G (p.Glu11Gly) single nucleotide variant Lethal congenital contracture syndrome 4 [RCV001007804] Chr12:101614502 [GRCh38]
Chr12:102008280 [GRCh37]
Chr12:12q23.2
uncertain significance
NM_002465.4(MYBPC1):c.290-10C>T single nucleotide variant Arthrogryposis, distal, type 1B [RCV001109466] Chr12:101631561 [GRCh38]
Chr12:102025339 [GRCh37]
Chr12:12q23.2
uncertain significance
NM_002465.4(MYBPC1):c.1423A>G (p.Ile475Val) single nucleotide variant Arthrogryposis, distal, type 1B [RCV001112232] Chr12:101651290 [GRCh38]
Chr12:102045068 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.3434-48G>A single nucleotide variant not provided [RCV001641504] Chr12:101682556 [GRCh38]
Chr12:102076334 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.1414G>C (p.Gly472Arg) single nucleotide variant not provided [RCV001358074] Chr12:101651281 [GRCh38]
Chr12:102045059 [GRCh37]
Chr12:12q23.2
uncertain significance
NM_002465.4(MYBPC1):c.1928-141A>G single nucleotide variant not provided [RCV001575733] Chr12:101661017 [GRCh38]
Chr12:102054795 [GRCh37]
Chr12:12q23.2
likely benign
NM_002465.4(MYBPC1):c.62-240A>C single nucleotide variant not provided [RCV001538521] Chr12:101616962 [GRCh38]
Chr12:102010740 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.2357-832C>T single nucleotide variant not provided [RCV001673306] Chr12:101666900 [GRCh38]
Chr12:102060678 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.1196+46dup duplication not provided [RCV001653186] Chr12:101648189..101648190 [GRCh38]
Chr12:102041967..102041968 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.2357-802_2357-801del deletion not provided [RCV001690809] Chr12:101666929..101666930 [GRCh38]
Chr12:102060707..102060708 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.1928-124C>T single nucleotide variant not provided [RCV001654322] Chr12:101661034 [GRCh38]
Chr12:102054812 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.1767+247dup duplication not provided [RCV001710417] Chr12:101653490..101653491 [GRCh38]
Chr12:102047268..102047269 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.2525-197CA[17] microsatellite not provided [RCV001686578] Chr12:101670123..101670124 [GRCh38]
Chr12:102063901..102063902 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.3492+289C>T single nucleotide variant not provided [RCV001539301] Chr12:101682951 [GRCh38]
Chr12:102076729 [GRCh37]
Chr12:12q23.2
likely benign
NM_002465.4(MYBPC1):c.2357-651C>T single nucleotide variant not provided [RCV001667580] Chr12:101667081 [GRCh38]
Chr12:102060859 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.2614-283C>A single nucleotide variant not provided [RCV001686652] Chr12:101673144 [GRCh38]
Chr12:102066922 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.1022T>C (p.Met341Thr) single nucleotide variant not provided [RCV001455990] Chr12:101646819 [GRCh38]
Chr12:102040597 [GRCh37]
Chr12:12q23.2
likely benign
NM_002465.4(MYBPC1):c.2524+30T>A single nucleotide variant not provided [RCV001589972] Chr12:101667929 [GRCh38]
Chr12:102061707 [GRCh37]
Chr12:12q23.2
likely benign
NM_002465.4(MYBPC1):c.2356+251G>A single nucleotide variant not provided [RCV001696641] Chr12:101663811 [GRCh38]
Chr12:102057589 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.179-112G>A single nucleotide variant not provided [RCV001653027] Chr12:101629322 [GRCh38]
Chr12:102023100 [GRCh37]
Chr12:12q23.2
likely benign
NM_002465.4(MYBPC1):c.2033-298C>T single nucleotide variant not provided [RCV001619145] Chr12:101662060 [GRCh38]
Chr12:102055838 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.2222-38T>C single nucleotide variant Arthrogryposis, distal, type 1B [RCV001776258]|Lethal congenital contracture syndrome 4 [RCV001776259]|Myopathy, congenital, with tremor [RCV001776260]|not provided [RCV001614250] Chr12:101663388 [GRCh38]
Chr12:102057166 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.439-143G>T single nucleotide variant not provided [RCV001653111] Chr12:101631878 [GRCh38]
Chr12:102025656 [GRCh37]
Chr12:12q23.2
likely benign
NM_002465.4(MYBPC1):c.1927+301dup duplication not provided [RCV001530783] Chr12:101660131..101660132 [GRCh38]
Chr12:102053909..102053910 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.2949+55G>C single nucleotide variant not provided [RCV001539726] Chr12:101675486 [GRCh38]
Chr12:102069264 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.2678A>G (p.Asn893Ser) single nucleotide variant not provided [RCV001470745] Chr12:101673491 [GRCh38]
Chr12:102067269 [GRCh37]
Chr12:12q23.2
likely benign
NM_002465.4(MYBPC1):c.2222-329G>A single nucleotide variant not provided [RCV001539210] Chr12:101663097 [GRCh38]
Chr12:102056875 [GRCh37]
Chr12:12q23.2
benign
NM_002465.4(MYBPC1):c.103+17G>A single nucleotide variant not provided [RCV001732786] Chr12:101617260 [GRCh38]
Chr12:102011038 [GRCh37]
Chr12:12q23.2
likely benign
NM_002465.4(MYBPC1):c.2033-20T>G single nucleotide variant not provided [RCV001733083] Chr12:101662338 [GRCh38]
Chr12:102056116 [GRCh37]
Chr12:12q23.2
likely benign
NM_002465.4(MYBPC1):c.2018G>T (p.Gly673Val) single nucleotide variant not provided [RCV001773042] Chr12:101661248 [GRCh38]
Chr12:102055026 [GRCh37]
Chr12:12q23.2
uncertain significance
NM_002465.4(MYBPC1):c.2010C>A (p.Tyr670Ter) single nucleotide variant not provided [RCV001763757] Chr12:101661240 [GRCh38]
Chr12:102055018 [GRCh37]
Chr12:12q23.2
uncertain significance
NM_002465.4(MYBPC1):c.476A>G (p.Asp159Gly) single nucleotide variant not provided [RCV001767834] Chr12:101632058 [GRCh38]
Chr12:102025836 [GRCh37]
Chr12:12q23.2
uncertain significance
NM_002465.4(MYBPC1):c.2436G>T (p.Lys812Asn) single nucleotide variant not provided [RCV001769006] Chr12:101667811 [GRCh38]
Chr12:102061589 [GRCh37]
Chr12:12q23.2
uncertain significance
NM_002465.4(MYBPC1):c.26-172_26-171insAG insertion not provided [RCV001758555] Chr12:101614323..101614324 [GRCh38]
Chr12:102008101..102008102 [GRCh37]
Chr12:12q23.2
likely benign
NM_002465.4(MYBPC1):c.122del (p.Pro41fs) deletion Abnormality of the musculature [RCV001814512] Chr12:101626887 [GRCh38]
Chr12:102020665 [GRCh37]
Chr12:12q23.2
likely pathogenic
GRCh37/hg19 12q23.1-23.3(chr12:100580198-105804075) copy number gain not specified [RCV002053014] Chr12:100580198..105804075 [GRCh37]
Chr12:12q23.1-23.3
uncertain significance
GRCh37/hg19 12q23.1-23.2(chr12:100564593-103021075) copy number loss not specified [RCV002053013] Chr12:100564593..103021075 [GRCh37]
Chr12:12q23.1-23.2
uncertain significance
NM_002465.4(MYBPC1):c.1053C>T (p.Ala351=) single nucleotide variant not provided [RCV002226059] Chr12:101646850 [GRCh38]
Chr12:102040628 [GRCh37]
Chr12:12q23.2
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7549 AgrOrtholog
COSMIC MYBPC1 COSMIC
Ensembl Genes ENSG00000196091 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000354845 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000354849 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000376665 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000400908 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000440034 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000442847 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000446128 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000447116 UniProtKB/TrEMBL
  ENSP00000447362 UniProtKB/TrEMBL
  ENSP00000447404 UniProtKB/TrEMBL
  ENSP00000447660 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000447900 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000448175 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000449702 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000500957 UniProtKB/TrEMBL
  ENSP00000501089 UniProtKB/TrEMBL
Ensembl Transcript ENST00000361466 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000361685 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000392934 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000452455 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000536007 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000541119 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000545503 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000547405 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000547509 UniProtKB/TrEMBL
  ENST00000549145 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000549608 UniProtKB/TrEMBL
  ENST00000550270 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000550514 UniProtKB/TrEMBL
  ENST00000551300 UniProtKB/TrEMBL
  ENST00000553190 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000673861 UniProtKB/TrEMBL
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000196091 GTEx
HGNC ID HGNC:7549 ENTREZGENE
Human Proteome Map MYBPC1 Human Proteome Map
InterPro FN3_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN3_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_I-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_sub UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_sub2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MyBP-C_THB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4604 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 4604 ENTREZGENE
OMIM 160794 OMIM
  614335 OMIM
  614915 OMIM
  618524 OMIM
Pfam fn3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  I-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  THB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31349 PharmGKB
PROSITE FN3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IG_LIKE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART FN3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IGc2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00409 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48726 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF49265 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A669KAR9_HUMAN UniProtKB/TrEMBL
  A0A669KB32_HUMAN UniProtKB/TrEMBL
  A8KAB1 ENTREZGENE, UniProtKB/TrEMBL
  B3KPP3 ENTREZGENE, UniProtKB/TrEMBL
  F8VZE0_HUMAN UniProtKB/TrEMBL
  F8VZY0_HUMAN UniProtKB/TrEMBL
  F8W1Z9_HUMAN UniProtKB/TrEMBL
  G3V1V7_HUMAN UniProtKB/TrEMBL
  MYPC1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q6P096_HUMAN UniProtKB/TrEMBL
  Q86TA8 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary B4DKR5 UniProtKB/Swiss-Prot
  B7Z8G8 UniProtKB/Swiss-Prot
  B7ZL02 UniProtKB/Swiss-Prot
  B7ZL09 UniProtKB/Swiss-Prot
  B7ZL10 UniProtKB/Swiss-Prot
  E7ESM5 UniProtKB/Swiss-Prot
  E7EWS6 UniProtKB/Swiss-Prot
  G3XAE8 UniProtKB/Swiss-Prot
  Q15497 UniProtKB/Swiss-Prot
  Q17RR7 UniProtKB/Swiss-Prot
  Q569K7 UniProtKB/Swiss-Prot
  Q86T48 UniProtKB/Swiss-Prot
  Q86TC8 UniProtKB/Swiss-Prot
  Q8N3L2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-10-08 MYBPC1  myosin binding protein C1  MYBPC1  myosin binding protein C, slow type  Symbol and/or name change 5135510 APPROVED