TUBA1A (tubulin alpha 1a) - Rat Genome Database

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Gene: TUBA1A (tubulin alpha 1a) Homo sapiens
Analyze
Symbol: TUBA1A
Name: tubulin alpha 1a
RGD ID: 1607082
HGNC Page HGNC
Description: Enables identical protein binding activity. Predicted to be involved in microtubule cytoskeleton organization and mitotic cell cycle. Located in cytoplasmic ribonucleoprotein granule; microtubule; and recycling endosome. Implicated in lissencephaly; lissencephaly 3; microcephaly; and visual epilepsy. Biomarker of Down syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: alpha-tubulin 3; B-ALPHA-1; FLJ25113; hum-a-tub1; hum-a-tub2; LIS3; TUBA3; tubulin alpha-1A chain; tubulin alpha-3 chain; tubulin B-alpha-1; tubulin, alpha 1a; tubulin, alpha 3; tubulin, alpha, brain-specific
RGD Orthologs
Mouse
Rat
Dog
Squirrel
Green Monkey
Alliance Genes
More Info more info ...
Related Pseudogenes: TUBA3GP   TUBAP6  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1249,184,686 - 49,189,080 (-)EnsemblGRCh38hg38GRCh38
GRCh381249,184,795 - 49,189,080 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371249,578,578 - 49,582,863 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361247,864,849 - 47,869,128 (-)NCBINCBI36hg18NCBI36
Celera1248,371,440 - 48,375,724 (-)NCBI
Cytogenetic Map12q13.12NCBI
HuRef1246,609,646 - 46,614,178 (-)NCBIHuRef
CHM1_11249,544,342 - 49,548,875 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-lariciresinol  (EXP)
(+)-schisandrin B  (ISO)
(-)-demecolcine  (EXP)
(-)-lariciresinol  (EXP)
1,2-dimethylhydrazine  (ISO)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,3-dimethoxynaphthalene-1,4-dione  (EXP)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2-methylcholine  (EXP)
3-chloropropane-1,2-diol  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP,ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4-hydroxyphenyl retinamide  (ISO)
9-cis-retinoic acid  (ISO)
abiraterone  (ISO)
acetamide  (ISO)
acetylsalicylic acid  (EXP)
acrylamide  (EXP)
aflatoxin B1  (EXP)
aldehydo-D-glucose  (ISO)
amiodarone  (ISO)
ammonium chloride  (ISO)
amphetamine  (ISO)
atrazine  (EXP)
belinostat  (ISO)
benzo[a]pyrene  (EXP,ISO)
beta-naphthoflavone  (EXP)
bexarotene  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
boron nitride  (EXP)
bromobenzene  (ISO)
cadmium dichloride  (ISO)
calcitriol  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
chloropicrin  (EXP)
chlorpromazine  (ISO)
choline  (ISO)
chromium(6+)  (EXP,ISO)
cisplatin  (EXP,ISO)
clobetasol  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
cyclosporin A  (EXP)
D-glucose  (ISO)
dexamethasone  (EXP,ISO)
dibenzo[a,l]pyrene  (EXP)
dibutyl phthalate  (ISO)
dichlorine  (ISO)
diclofenac  (EXP)
dicrotophos  (EXP)
dihydroartemisinin  (EXP)
dioxygen  (ISO)
doxorubicin  (EXP,ISO)
entinostat  (ISO)
ethanol  (ISO)
fluoranthene  (ISO)
folic acid  (EXP,ISO)
formaldehyde  (EXP)
furan  (ISO)
geldanamycin  (ISO)
glucose  (ISO)
glyphosate  (EXP)
gold atom  (ISO)
gold(0)  (ISO)
hydrogen peroxide  (EXP)
indometacin  (EXP)
ivermectin  (EXP)
L-methionine  (ISO)
leflunomide  (EXP)
lovastatin  (ISO)
maneb  (ISO)
menadione  (EXP)
mercury dibromide  (ISO)
methotrexate  (ISO)
methoxyacetic acid  (ISO)
miconazole  (ISO)
minocycline  (ISO)
N,N-diethyl-m-toluamide  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosomorpholine  (ISO)
N-Nitrosopyrrolidine  (EXP)
naphthalene  (ISO)
nickel dichloride  (EXP)
nintedanib  (ISO)
nocodazole  (ISO)
O-methyleugenol  (EXP)
ozone  (ISO)
p-chloromercuribenzoic acid  (ISO)
panobinostat  (ISO)
paracetamol  (ISO)
paraquat  (ISO)
permethrin  (ISO)
phenethyl isothiocyanate  (EXP)
phenobarbital  (ISO)
phenol red  (EXP)
picoxystrobin  (EXP)
pirinixic acid  (ISO)
piroxicam  (EXP)
potassium chromate  (EXP)
potassium dichromate  (EXP)
pravastatin  (ISO)
procymidone  (ISO)
quercetin  (EXP,ISO)
quinolin-8-ol  (EXP)
resveratrol  (ISO)
rotenone  (ISO)
sevoflurane  (ISO)
sildenafil citrate  (ISO)
silicon dioxide  (EXP)
sodium arsenite  (EXP)
sodium dichromate  (ISO)
sodium fluoride  (ISO)
sulforaphane  (EXP)
sunitinib  (EXP)
teriflunomide  (ISO)
tert-butyl hydroperoxide  (EXP)
testosterone  (ISO)
Testosterone propionate  (ISO)
tetrachloroethene  (ISO)
tetrachloromethane  (ISO)
thapsigargin  (EXP)
titanium dioxide  (ISO)
triadimefon  (ISO)
tributylstannane  (EXP)
trichostatin A  (EXP)
triphenylstannane  (EXP)
tunicamycin  (EXP)
uranium atom  (EXP)
urethane  (EXP)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
vinclozolin  (ISO)
warfarin  (ISO)
withaferin A  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:2777757   PMID:3839072   PMID:6646120   PMID:7651436   PMID:7744867   PMID:7790358   PMID:8530437   PMID:9384577   PMID:9553134   PMID:9722999   PMID:10191277   PMID:10772929  
PMID:10862713   PMID:10908577   PMID:11076968   PMID:11121746   PMID:11146551   PMID:11163133   PMID:11444863   PMID:11504633   PMID:11687285   PMID:11842207   PMID:11953448   PMID:11964161  
PMID:12024216   PMID:12052866   PMID:12090300   PMID:12221128   PMID:12417528   PMID:12417652   PMID:12429849   PMID:12477932   PMID:12482968   PMID:12486001   PMID:12486003   PMID:12510195  
PMID:12606581   PMID:12621024   PMID:12639940   PMID:12639963   PMID:12716939   PMID:12771190   PMID:12777385   PMID:12852856   PMID:14506234   PMID:14532270   PMID:14583623   PMID:14594945  
PMID:14634002   PMID:14697242   PMID:14744259   PMID:14970193   PMID:15103018   PMID:15121898   PMID:15161933   PMID:15303970   PMID:15324660   PMID:15331440   PMID:15331610   PMID:15489334  
PMID:15492215   PMID:15556606   PMID:15657067   PMID:15691386   PMID:15698476   PMID:15878338   PMID:15952740   PMID:16039987   PMID:16148047   PMID:16306228   PMID:16327313   PMID:16344560  
PMID:16455083   PMID:16462731   PMID:16714300   PMID:16799092   PMID:16941085   PMID:16945107   PMID:17081983   PMID:17139257   PMID:17218254   PMID:17266347   PMID:17283187   PMID:17360745  
PMID:17389232   PMID:17461779   PMID:17563362   PMID:17573780   PMID:17620599   PMID:17868192   PMID:17914564   PMID:17955473   PMID:17979178   PMID:18029348   PMID:18199681   PMID:18222923  
PMID:18250096   PMID:18341635   PMID:18400243   PMID:18669490   PMID:19056867   PMID:19167051   PMID:19199708   PMID:19251251   PMID:19338310   PMID:19344692   PMID:19380743   PMID:19405953  
PMID:19460752   PMID:19615732   PMID:19698782   PMID:19805454   PMID:19893491   PMID:19961433   PMID:20111909   PMID:20195357   PMID:20371770   PMID:20466733   PMID:20510079   PMID:20603323  
PMID:20682791   PMID:20691906   PMID:20810659   PMID:20816854   PMID:21081503   PMID:21081666   PMID:21094644   PMID:21145461   PMID:21146485   PMID:21151833   PMID:21151955   PMID:21159966  
PMID:21167302   PMID:21278340   PMID:21339331   PMID:21357695   PMID:21360678   PMID:21403111   PMID:21525035   PMID:21565611   PMID:21630459   PMID:21873635   PMID:21900206   PMID:21942715  
PMID:21988832   PMID:22119785   PMID:22133677   PMID:22157746   PMID:22159412   PMID:22174317   PMID:22264709   PMID:22268729   PMID:22303461   PMID:22367210   PMID:22565157   PMID:22565168  
PMID:22633752   PMID:22810585   PMID:22863883   PMID:22939629   PMID:22948023   PMID:23125841   PMID:23144738   PMID:23184937   PMID:23246001   PMID:23361065   PMID:23398456   PMID:23443559  
PMID:23463506   PMID:23528852   PMID:23667531   PMID:23703321   PMID:23818224   PMID:23826228   PMID:24104479   PMID:24169447   PMID:24189400   PMID:24392928   PMID:24561039   PMID:24574051  
PMID:24614595   PMID:24625528   PMID:24658140   PMID:24685680   PMID:24688049   PMID:24714105   PMID:24914767   PMID:24940781   PMID:24981860   PMID:25036637   PMID:25059107   PMID:25192599  
PMID:25281560   PMID:25328666   PMID:25402006   PMID:25437307   PMID:25447205   PMID:25486481   PMID:25499913   PMID:25602620   PMID:25609649   PMID:25640309   PMID:25670202   PMID:25740311  
PMID:25798074   PMID:25864199   PMID:25921289   PMID:25940091   PMID:25944111   PMID:25963833   PMID:26161965   PMID:26165356   PMID:26186194   PMID:26209609   PMID:26227334   PMID:26299517  
PMID:26300397   PMID:26307527   PMID:26344197   PMID:26460568   PMID:26485645   PMID:26493046   PMID:26496610   PMID:26549023   PMID:26638075   PMID:26687479   PMID:26864000   PMID:27010057  
PMID:27129302   PMID:27228351   PMID:27291054   PMID:27431206   PMID:27453043   PMID:27542412   PMID:27684187   PMID:28117675   PMID:28302793   PMID:28440465   PMID:28514442   PMID:28515276  
PMID:28613254   PMID:28628306   PMID:28687665   PMID:28694353   PMID:28912522   PMID:28977666   PMID:29109381   PMID:29229926   PMID:29331416   PMID:29478914   PMID:29549242   PMID:29563501  
PMID:29568061   PMID:29665387   PMID:29676528   PMID:29845934   PMID:29955894   PMID:30209976   PMID:30249017   PMID:30274285   PMID:30429459   PMID:30442662   PMID:30462309   PMID:30463901  
PMID:30711629   PMID:30745168   PMID:30804502   PMID:30809309   PMID:30833792   PMID:30940648   PMID:31048545   PMID:31091453   PMID:31235911   PMID:31353912   PMID:31405213   PMID:31462741  
PMID:31501420   PMID:31527668   PMID:31536960   PMID:31578588   PMID:31586073   PMID:31669268   PMID:31767681   PMID:31833200   PMID:31952546   PMID:31980649   PMID:32060285   PMID:32129710  
PMID:32807901   PMID:32814053   PMID:32885602   PMID:32929329   PMID:32929379   PMID:32989256   PMID:32989326   PMID:32994395   PMID:33005030   PMID:33087562   PMID:33106477   PMID:33194618  
PMID:34079125  


Genomics

Comparative Map Data
TUBA1A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1249,184,686 - 49,189,080 (-)EnsemblGRCh38hg38GRCh38
GRCh381249,184,795 - 49,189,080 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371249,578,578 - 49,582,863 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361247,864,849 - 47,869,128 (-)NCBINCBI36hg18NCBI36
Celera1248,371,440 - 48,375,724 (-)NCBI
Cytogenetic Map12q13.12NCBI
HuRef1246,609,646 - 46,614,178 (-)NCBIHuRef
CHM1_11249,544,342 - 49,548,875 (-)NCBICHM1_1
Tuba1a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391598,847,728 - 98,851,382 (-)NCBIGRCm39mm39
GRCm39 Ensembl1598,847,718 - 98,851,584 (-)Ensembl
GRCm381598,949,847 - 98,953,501 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1598,949,837 - 98,953,703 (-)EnsemblGRCm38mm10GRCm38
MGSCv371598,780,278 - 98,783,932 (-)NCBIGRCm37mm9NCBIm37
MGSCv361598,777,881 - 98,781,535 (-)NCBImm8
Celera15101,099,071 - 101,102,725 (-)NCBICelera
Cytogenetic Map15F1NCBI
cM Map1555.29NCBI
Tuba1a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27130,113,214 - 130,116,880 (-)NCBImRatBN7.2
Rnor_6.07140,637,287 - 140,640,953 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7140,637,287 - 140,640,953 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0X115,143,854 - 115,147,520 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47137,729,405 - 137,733,071 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.17137,805,841 - 137,809,508 (-)NCBI
Celera7126,598,383 - 126,602,049 (-)NCBICelera
Cytogenetic Map7q36NCBI
LOC610636
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13725,811,491 - 25,818,838 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3726,637,391 - 26,644,728 (+)NCBI
ROS_Cfam_1.03725,826,736 - 25,834,074 (+)NCBI
UMICH_Zoey_3.13725,731,112 - 25,738,448 (+)NCBI
UNSW_CanFamBas_1.03725,667,143 - 25,673,793 (+)NCBI
UU_Cfam_GSD_1.03725,687,138 - 25,694,480 (+)NCBI
LOC101972766
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494566,200,736 - 66,205,174 (+)NCBI
SpeTri2.0NW_0049365126,959,656 - 6,964,299 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LOC103238261
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11145,419,046 - 45,423,574 (-)NCBI
ChlSab1.1 Ensembl1145,418,748 - 45,423,685 (-)Ensembl
Vero_WHO_p1.0NW_023666037200,712,750 - 200,717,153 (+)NCBI

Position Markers
WI-7090  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371249,578,587 - 49,578,786UniSTSGRCh37
Build 361247,864,854 - 47,865,053RGDNCBI36
Celera1248,371,445 - 48,371,644RGD
Cytogenetic Map12q13.12UniSTS
HuRef1246,609,655 - 46,609,854UniSTS
GeneMap99-GB4 RH Map12217.82UniSTS
Whitehead-RH Map12312.3UniSTS
NCBI RH Map12402.2UniSTS
PMC86714P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371249,579,235 - 49,579,762UniSTSGRCh37
Build 361247,865,502 - 47,866,029RGDNCBI36
Celera1248,372,093 - 48,372,620RGD
Cytogenetic Map12q13.12UniSTS
HuRef1246,610,303 - 46,610,830UniSTS
D22S1042  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map12q13.12UniSTS
RH48063  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map12q13.12UniSTS
GeneMap99-GB4 RH Map12245.68UniSTS
NCBI RH Map12451.0UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR30Ahsa-miR-30a-3pMirtarbaseexternal_infoqRT-PCRFunctional MTI (Weak)16239240

Predicted Target Of
Summary Value
Count of predictions:1615
Count of miRNA genes:828
Interacting mature miRNAs:942
Transcripts:ENST00000295766, ENST00000301071, ENST00000546918, ENST00000547939, ENST00000548363, ENST00000550254, ENST00000550767, ENST00000550811, ENST00000552924
Prediction methods:Microtar, Miranda, Rnahybrid
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 21 1 1 1 1 1 1 8 308 1 14 40
Medium 2344 2967 1433 334 1922 174 3860 1683 3426 401 1427 1546 171 1 1204 2297 5 2
Low 73 23 292 289 28 290 496 506 17 19 27 3 491 1
Below cutoff 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001270399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001270400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC010173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF141347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF141348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU136397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC050637 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC057823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA117857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC340080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  K00557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X01703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000295766   ⟹   ENSP00000439020
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1249,184,959 - 49,188,899 (-)Ensembl
RefSeq Acc Id: ENST00000301071   ⟹   ENSP00000301071
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1249,184,795 - 49,189,080 (-)Ensembl
RefSeq Acc Id: ENST00000546918   ⟹   ENSP00000446613
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1249,185,621 - 49,189,066 (-)Ensembl
RefSeq Acc Id: ENST00000547939   ⟹   ENSP00000450268
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1249,184,771 - 49,187,404 (-)Ensembl
RefSeq Acc Id: ENST00000548363
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1249,186,016 - 49,188,983 (-)Ensembl
RefSeq Acc Id: ENST00000550254
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1249,186,163 - 49,189,001 (-)Ensembl
RefSeq Acc Id: ENST00000550767   ⟹   ENSP00000446637
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1249,184,771 - 49,189,066 (-)Ensembl
RefSeq Acc Id: ENST00000550811   ⟹   ENSP00000449016
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1249,184,771 - 49,187,869 (-)Ensembl
RefSeq Acc Id: ENST00000552924   ⟹   ENSP00000448725
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1249,184,771 - 49,189,078 (-)Ensembl
RefSeq Acc Id: ENST00000679733   ⟹   ENSP00000505459
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1249,184,686 - 49,189,078 (-)Ensembl
RefSeq Acc Id: NM_001270399   ⟹   NP_001257328
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381249,184,795 - 49,189,080 (-)NCBI
GRCh371249,578,578 - 49,583,107 (-)NCBI
HuRef1246,609,646 - 46,614,178 (-)NCBI
CHM1_11249,544,342 - 49,548,875 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001270400   ⟹   NP_001257329
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381249,184,795 - 49,189,080 (-)NCBI
GRCh371249,578,578 - 49,583,107 (-)NCBI
HuRef1246,609,646 - 46,614,178 (-)NCBI
CHM1_11249,544,342 - 49,548,875 (-)NCBI
Sequence:
RefSeq Acc Id: NM_006009   ⟹   NP_006000
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381249,184,795 - 49,189,080 (-)NCBI
GRCh371249,578,578 - 49,583,107 (-)NCBI
Build 361247,864,849 - 47,869,128 (-)NCBI Archive
HuRef1246,609,646 - 46,614,178 (-)NCBI
CHM1_11249,544,342 - 49,548,875 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_006000   ⟸   NM_006009
- Peptide Label: isoform 1
- UniProtKB: Q71U36 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001257329   ⟸   NM_001270400
- Peptide Label: isoform 2
- UniProtKB: Q71U36 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001257328   ⟸   NM_001270399
- Peptide Label: isoform 1
- UniProtKB: Q71U36 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000439020   ⟸   ENST00000295766
RefSeq Acc Id: ENSP00000446613   ⟸   ENST00000546918
RefSeq Acc Id: ENSP00000450268   ⟸   ENST00000547939
RefSeq Acc Id: ENSP00000449016   ⟸   ENST00000550811
RefSeq Acc Id: ENSP00000446637   ⟸   ENST00000550767
RefSeq Acc Id: ENSP00000301071   ⟸   ENST00000301071
RefSeq Acc Id: ENSP00000448725   ⟸   ENST00000552924
RefSeq Acc Id: ENSP00000505459   ⟸   ENST00000679733
Protein Domains
Tubulin

Promoters
RGD ID:6790575
Promoter ID:HG_KWN:15550
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000301071,   UC001RTQ.1,   UC001RTR.1,   UC009ZLF.1,   UC009ZLG.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361247,868,501 - 47,869,157 (-)MPROMDB
RGD ID:6849452
Promoter ID:EP14030
Type:single initiation site
Name:HS_TUBA1
Description:alpha-tubulin b alpha 1.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Tissues & Cell Lines:cells of neural origin
Experiment Methods:Nuclease protection
Position:
Human AssemblyChrPosition (strand)Source
Build 361247,868,678 - 47,868,738EPD
RGD ID:7223811
Promoter ID:EPDNEW_H17651
Type:initiation region
Name:TUBA1A_1
Description:tubulin alpha 1a
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17654  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381249,186,833 - 49,186,893EPDNEW
RGD ID:7223817
Promoter ID:EPDNEW_H17654
Type:initiation region
Name:TUBA1A_2
Description:tubulin alpha 1a
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17651  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381249,189,324 - 49,189,384EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_006009.4(TUBA1A):c.1168C>G (p.Arg390Gly) single nucleotide variant Tubulinopathies [RCV000767456]|not provided [RCV000520458] Chr12:49185198 [GRCh38]
Chr12:49578981 [GRCh37]
Chr12:12q13.12
pathogenic|likely pathogenic
NM_006009.4(TUBA1A):c.1025A>C (p.Gln342Pro) single nucleotide variant Tubulinopathies [RCV000767457]|not provided [RCV000521383] Chr12:49185341 [GRCh38]
Chr12:49579124 [GRCh37]
Chr12:12q13.12
likely pathogenic
NM_006009.4(TUBA1A):c.13A>C (p.Ile5Leu) single nucleotide variant Lissencephaly 3 [RCV000023197]|Tubulinopathies [RCV000767414] Chr12:49186824 [GRCh38]
Chr12:49580607 [GRCh37]
Chr12:12q13.12
pathogenic|likely pathogenic
NM_006009.4(TUBA1A):c.790C>T (p.Arg264Cys) single nucleotide variant Inborn genetic diseases [RCV000622693]|Lissencephaly 3 [RCV000007486]|Lissencephaly [RCV001291302]|Tubulinopathies [RCV000767404]|not provided [RCV001564937] Chr12:49185576 [GRCh38]
Chr12:49579359 [GRCh37]
Chr12:12q13.12
pathogenic|likely pathogenic
NM_006009.4(TUBA1A):c.1205G>A (p.Arg402His) single nucleotide variant Lissencephaly 3 [RCV000007487]|Lissencephaly [RCV001291299]|Tubulinopathies [RCV000767403]|not provided [RCV001091238] Chr12:49185161 [GRCh38]
Chr12:49578944 [GRCh37]
Chr12:12q13.12
pathogenic|likely pathogenic
NM_006009.4(TUBA1A):c.562A>C (p.Ile188Leu) single nucleotide variant Lissencephaly 3 [RCV000007488]|Tubulinopathies [RCV000767405] Chr12:49185804 [GRCh38]
Chr12:49579587 [GRCh37]
Chr12:12q13.12
pathogenic
NM_006009.4(TUBA1A):c.787C>A (p.Pro263Thr) single nucleotide variant Lissencephaly 3 [RCV000007489]|Tubulinopathies [RCV000767429] Chr12:49185579 [GRCh38]
Chr12:49579362 [GRCh37]
Chr12:12q13.12
pathogenic
NM_006009.4(TUBA1A):c.1256C>T (p.Ser419Leu) single nucleotide variant Lissencephaly 3 [RCV000007490]|Tubulinopathies [RCV000767406] Chr12:49185110 [GRCh38]
Chr12:49578893 [GRCh37]
Chr12:12q13.12
pathogenic
NM_006009.4(TUBA1A):c.1190T>C (p.Leu397Pro) single nucleotide variant Lissencephaly 3 [RCV000007491]|Tubulinopathies [RCV000767468] Chr12:49185176 [GRCh38]
Chr12:49578959 [GRCh37]
Chr12:12q13.12
pathogenic
NM_006009.4(TUBA1A):c.1264C>T (p.Arg422Cys) single nucleotide variant Inborn genetic diseases [RCV000622854]|Lissencephaly 3 [RCV000007492]|Tubulinopathies [RCV000767469]|not provided [RCV000432377] Chr12:49185102 [GRCh38]
Chr12:49578885 [GRCh37]
Chr12:12q13.12
pathogenic
NM_006009.4(TUBA1A):c.1265G>A (p.Arg422His) single nucleotide variant Lissencephaly 3 [RCV000007493]|Lissencephaly [RCV001291201]|Tubulinopathies [RCV000767410]|not provided [RCV000255074] Chr12:49185101 [GRCh38]
Chr12:49578884 [GRCh37]
Chr12:12q13.12
pathogenic|likely pathogenic
NM_006009.3(TUBA1A):c.711C>T (p.Ser237=) single nucleotide variant Malignant melanoma [RCV000070017] Chr12:49185655 [GRCh38]
Chr12:49579438 [GRCh37]
Chr12:47865705 [NCBI36]
Chr12:12q13.12
not provided
NM_006009.4(TUBA1A):c.510T>C (p.Ser170=) single nucleotide variant not specified [RCV000147811] Chr12:49185856 [GRCh38]
Chr12:49579639 [GRCh37]
Chr12:12q13.12
benign
NM_006009.4(TUBA1A):c.522G>A (p.Ala174=) single nucleotide variant not specified [RCV000147813] Chr12:49185844 [GRCh38]
Chr12:49579627 [GRCh37]
Chr12:12q13.12
benign
NM_006009.4(TUBA1A):c.596A>G (p.Asp199Gly) single nucleotide variant Tubulinopathies [RCV000767507]|not provided [RCV000171214] Chr12:49185770 [GRCh38]
Chr12:49579553 [GRCh37]
Chr12:12q13.12
likely pathogenic
NM_006009.4(TUBA1A):c.1226T>C (p.Val409Ala) single nucleotide variant Cryptorchidism [RCV001003600]|Lissencephaly 3 [RCV000190503]|Tubulinopathies [RCV000767496]|not provided [RCV000492850] Chr12:49185140 [GRCh38]
Chr12:49578923 [GRCh37]
Chr12:12q13.12
pathogenic|likely pathogenic
NM_006009.4(TUBA1A):c.1008G>A (p.Lys336=) single nucleotide variant not provided [RCV000972500]|not specified [RCV000147793] Chr12:49185358 [GRCh38]
Chr12:49579141 [GRCh37]
Chr12:12q13.12
benign|likely benign
NM_006009.4(TUBA1A):c.1129A>G (p.Met377Val) single nucleotide variant Lissencephaly 3 [RCV000147794]|Tubulinopathies [RCV000767443] Chr12:49185237 [GRCh38]
Chr12:49579020 [GRCh37]
Chr12:12q13.12
likely pathogenic
NM_006009.4(TUBA1A):c.1148C>T (p.Ala383Val) single nucleotide variant Abnormality of neuronal migration [RCV000201372]|Lissencephaly 3 [RCV000147795]|Tubulinopathies [RCV000767441] Chr12:49185218 [GRCh38]
Chr12:49579001 [GRCh37]
Chr12:12q13.12
pathogenic|likely pathogenic
NM_006009.4(TUBA1A):c.1203A>G (p.Lys401=) single nucleotide variant not specified [RCV000147796] Chr12:49185163 [GRCh38]
Chr12:49578946 [GRCh37]
Chr12:12q13.12
benign
NM_006009.4(TUBA1A):c.1204C>A (p.Arg402Ser) single nucleotide variant Lissencephaly 3 [RCV000147797]|Tubulinopathies [RCV000767437] Chr12:49185162 [GRCh38]
Chr12:49578945 [GRCh37]
Chr12:12q13.12
likely pathogenic
NM_006009.4(TUBA1A):c.1204C>T (p.Arg402Cys) single nucleotide variant Autosomal recessive limb-girdle muscular dystrophy type 2D [RCV000663417]|Lissencephaly 3 [RCV000147798]|Lissencephaly [RCV001291300]|Tubulinopathies [RCV000767408]|not provided [RCV000494633] Chr12:49185162 [GRCh38]
Chr12:49578945 [GRCh37]
Chr12:12q13.12
pathogenic|likely pathogenic
NM_006009.4(TUBA1A):c.1205G>T (p.Arg402Leu) single nucleotide variant Lissencephaly 3 [RCV000147799]|Tubulinopathies [RCV000767409] Chr12:49185161 [GRCh38]
Chr12:49578944 [GRCh37]
Chr12:12q13.12
pathogenic
NM_006009.4(TUBA1A):c.1274T>A (p.Met425Lys) single nucleotide variant Lissencephaly 3 [RCV000147800]|Tubulinopathies [RCV000767475] Chr12:49185092 [GRCh38]
Chr12:49578875 [GRCh37]
Chr12:12q13.12
pathogenic|likely pathogenic
NM_006009.4(TUBA1A):c.152C>T (p.Thr51Ile) single nucleotide variant Lissencephaly 3 [RCV000147801]|Tubulinopathies [RCV000767516] Chr12:49186685 [GRCh38]
Chr12:49580468 [GRCh37]
Chr12:12q13.12
likely pathogenic
NM_006009.4(TUBA1A):c.162T>A (p.Ser54Arg) single nucleotide variant Lissencephaly 3 [RCV000147802]|Tubulinopathies [RCV000767515] Chr12:49186675 [GRCh38]
Chr12:49580458 [GRCh37]
Chr12:12q13.12
likely pathogenic
NM_006009.4(TUBA1A):c.189C>T (p.Pro63=) single nucleotide variant not provided [RCV000881648]|not specified [RCV000147803] Chr12:49186648 [GRCh38]
Chr12:49580431 [GRCh37]
Chr12:12q13.12
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006009.4(TUBA1A):c.226+10C>T single nucleotide variant not provided [RCV000714137]|not specified [RCV000147804] Chr12:49186601 [GRCh38]
Chr12:49580384 [GRCh37]
Chr12:12q13.12
benign|likely benign|conflicting interpretations of pathogenicity
NM_006009.4(TUBA1A):c.276T>C (p.Leu92=) single nucleotide variant not specified [RCV000147805] Chr12:49186409 [GRCh38]
Chr12:49580192 [GRCh37]
Chr12:12q13.12
likely benign|uncertain significance
NM_006009.4(TUBA1A):c.288A>G (p.Lys96=) single nucleotide variant not provided [RCV000714138]|not specified [RCV000147806] Chr12:49186397 [GRCh38]
Chr12:49580180 [GRCh37]
Chr12:12q13.12
benign|likely benign
NM_006009.4(TUBA1A):c.396C>T (p.Leu132=) single nucleotide variant not provided [RCV000963303]|not specified [RCV000147807] Chr12:49185970 [GRCh38]
Chr12:49579753 [GRCh37]
Chr12:12q13.12
benign|likely benign|conflicting interpretations of pathogenicity
NM_006009.4(TUBA1A):c.4-7C>T single nucleotide variant Lissencephaly 3 [RCV000147808]|not provided [RCV000727043]|not specified [RCV000438075] Chr12:49186840 [GRCh38]
Chr12:49580623 [GRCh37]
Chr12:12q13.12
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006009.4(TUBA1A):c.453G>C (p.Ser151=) single nucleotide variant not provided [RCV000714139]|not specified [RCV000147809] Chr12:49185913 [GRCh38]
Chr12:49579696 [GRCh37]
Chr12:12q13.12
benign
NM_006009.4(TUBA1A):c.481T>G (p.Tyr161Asp) single nucleotide variant Lissencephaly 3 [RCV000147810]|Tubulinopathies [RCV000767508] Chr12:49185885 [GRCh38]
Chr12:49579668 [GRCh37]
Chr12:12q13.12
pathogenic|likely pathogenic
NM_006009.4(TUBA1A):c.521C>T (p.Ala174Val) single nucleotide variant Lissencephaly 3 [RCV000147812]|Tubulinopathies [RCV000767459]|not provided [RCV000658646] Chr12:49185845 [GRCh38]
Chr12:49579628 [GRCh37]
Chr12:12q13.12
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_006009.4(TUBA1A):c.562_564dup (p.Ile188dup) duplication Lissencephaly 3 [RCV000147814] Chr12:49185801..49185802 [GRCh38]
Chr12:49579584..49579585 [GRCh37]
Chr12:12q13.12
uncertain significance
NM_006009.4(TUBA1A):c.5G>A (p.Arg2His) single nucleotide variant Global developmental delay [RCV001003601]|Inborn genetic diseases [RCV000190671]|Lissencephaly 3 [RCV000147815]|Neurodevelopmental disorder [RCV001375034]|Tubulinopathies [RCV000767455]|not provided [RCV000494655] Chr12:49186832 [GRCh38]
Chr12:49580615 [GRCh37]
Chr12:12q13.12
pathogenic|likely pathogenic
NM_006009.4(TUBA1A):c.698A>G (p.Gln233Arg) single nucleotide variant Lissencephaly 3 [RCV000147816]|Tubulinopathies [RCV000767504] Chr12:49185668 [GRCh38]
Chr12:49579451 [GRCh37]
Chr12:12q13.12
likely pathogenic
NM_006009.4(TUBA1A):c.758C>G (p.Thr253Arg) single nucleotide variant Lissencephaly 3 [RCV000147817] Chr12:49185608 [GRCh38]
Chr12:49579391 [GRCh37]
Chr12:12q13.12
uncertain significance
NM_006009.4(TUBA1A):c.808G>T (p.Ala270Ser) single nucleotide variant Lissencephaly 3 [RCV000147818]|Tubulinopathies [RCV000767426] Chr12:49185558 [GRCh38]
Chr12:49579341 [GRCh37]
Chr12:12q13.12
pathogenic|likely pathogenic
NM_006009.4(TUBA1A):c.966C>T (p.Asp322=) single nucleotide variant not provided [RCV000969803]|not specified [RCV000430370] Chr12:49185400 [GRCh38]
Chr12:49579183 [GRCh37]
Chr12:12q13.12
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006009.4(TUBA1A):c.96C>T (p.Pro32=) single nucleotide variant not specified [RCV000147820] Chr12:49186741 [GRCh38]
Chr12:49580524 [GRCh37]
Chr12:12q13.12
likely benign|uncertain significance
NM_006009.4(TUBA1A):c.986A>G (p.Asn329Ser) single nucleotide variant Lissencephaly 3 [RCV000147821]|Tubulinopathies [RCV000767474] Chr12:49185380 [GRCh38]
Chr12:49579163 [GRCh37]
Chr12:12q13.12
pathogenic|likely pathogenic
NM_006009.4(TUBA1A):c.991G>A (p.Ala331Thr) single nucleotide variant Lissencephaly 3 [RCV000147822] Chr12:49185375 [GRCh38]
Chr12:49579158 [GRCh37]
Chr12:12q13.12
uncertain significance
NM_006009.4(TUBA1A):c.995T>C (p.Ile332Thr) single nucleotide variant Lissencephaly 3 [RCV000147823]|Lissencephaly [RCV001291301]|Tubulinopathies [RCV000767446] Chr12:49185371 [GRCh38]
Chr12:49579154 [GRCh37]
Chr12:12q13.12
likely pathogenic|uncertain significance
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
NM_006009.4(TUBA1A):c.1224C>A (p.Tyr408Ter) single nucleotide variant Lissencephaly 3 [RCV000191138]|Tubulinopathies [RCV000767436] Chr12:49185142 [GRCh38]
Chr12:49578925 [GRCh37]
Chr12:12q13.12
pathogenic|uncertain significance
NM_006009.4(TUBA1A):c.1248T>C (p.Gly416=) single nucleotide variant not specified [RCV000192557] Chr12:49185118 [GRCh38]
Chr12:49578901 [GRCh37]
Chr12:12q13.12
uncertain significance
NM_006009.4(TUBA1A):c.273A>G (p.Gln91=) single nucleotide variant not provided [RCV001568164]|not specified [RCV000192635] Chr12:49186412 [GRCh38]
Chr12:49580195 [GRCh37]
Chr12:12q13.12
likely benign|uncertain significance
NM_006009.4(TUBA1A):c.246C>T (p.Thr82=) single nucleotide variant not provided [RCV000971589]|not specified [RCV000193212] Chr12:49186439 [GRCh38]
Chr12:49580222 [GRCh37]
Chr12:12q13.12
benign|likely benign
NM_006009.4(TUBA1A):c.786T>C (p.Tyr262=) single nucleotide variant not provided [RCV000879998]|not specified [RCV000193654] Chr12:49185580 [GRCh38]
Chr12:49579363 [GRCh37]
Chr12:12q13.12
likely benign|uncertain significance
NM_006009.4(TUBA1A):c.352G>A (p.Val118Met) single nucleotide variant Lissencephaly 3 [RCV000199824]|Tubulinopathies [RCV000767513] Chr12:49186333 [GRCh38]
Chr12:49580116 [GRCh37]
Chr12:12q13.12
pathogenic|likely pathogenic
NM_006009.4(TUBA1A):c.269A>G (p.Glu90Gly) single nucleotide variant Lissencephaly 3 [RCV000194237]|Tubulinopathies [RCV000767514] Chr12:49186416 [GRCh38]
Chr12:49580199 [GRCh37]
Chr12:12q13.12
likely pathogenic
NM_006009.4(TUBA1A):c.1105G>A (p.Ala369Thr) single nucleotide variant Lissencephaly 3 [RCV000194532]|Tubulinopathies [RCV000767479]|not provided [RCV001091239] Chr12:49185261 [GRCh38]
Chr12:49579044 [GRCh37]
Chr12:12q13.12
pathogenic|likely pathogenic
NM_006009.4(TUBA1A):c.970G>C (p.Val324Leu) single nucleotide variant Lissencephaly 3 [RCV000194600]|Tubulinopathies [RCV000767447] Chr12:49185396 [GRCh38]
Chr12:49579179 [GRCh37]
Chr12:12q13.12
likely pathogenic
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
GRCh37/hg19 12p11.21-q13.12(chr12:31886971-50360461)x3 copy number gain See cases [RCV000207454] Chr12:31886971..50360461 [GRCh37]
Chr12:12p11.21-q13.12
pathogenic
NM_006009.4(TUBA1A):c.1169G>A (p.Arg390His) single nucleotide variant Lissencephaly 3 [RCV000578289]|Tubulinopathies [RCV000767476]|not provided [RCV001562806] Chr12:49185197 [GRCh38]
Chr12:49578980 [GRCh37]
Chr12:12q13.12
pathogenic
NM_006009.4(TUBA1A):c.1055A>T (p.Lys352Met) single nucleotide variant Inborn genetic diseases [RCV000622757]|Tubulinopathies [RCV000767522] Chr12:49185311 [GRCh38]
Chr12:49579094 [GRCh37]
Chr12:12q13.12
likely pathogenic
NM_006009.4(TUBA1A):c.227-42T>C single nucleotide variant not specified [RCV000251362] Chr12:49186500 [GRCh38]
Chr12:49580283 [GRCh37]
Chr12:12q13.12
benign
NM_006009.4(TUBA1A):c.227-38C>G single nucleotide variant not specified [RCV000247055] Chr12:49186496 [GRCh38]
Chr12:49580279 [GRCh37]
Chr12:12q13.12
benign
NM_006009.4(TUBA1A):c.790C>G (p.Arg264Gly) single nucleotide variant Tubulinopathies [RCV000767502]|not provided [RCV000256084] Chr12:49185576 [GRCh38]
Chr12:49579359 [GRCh37]
Chr12:12q13.12
pathogenic|likely pathogenic
NM_006009.4(TUBA1A):c.367C>T (p.Arg123Cys) single nucleotide variant Tubulinopathies [RCV000767482]|not provided [RCV000256088] Chr12:49186318 [GRCh38]
Chr12:49580101 [GRCh37]
Chr12:12q13.12
pathogenic
NM_006009.4(TUBA1A):c.-78C>A single nucleotide variant Lissencephaly, Dominant [RCV000322779] Chr12:49189057 [GRCh38]
Chr12:49582840 [GRCh37]
Chr12:12q13.12
likely benign
NM_006009.4(TUBA1A):c.-78C>T single nucleotide variant Lissencephaly, Dominant [RCV000268401] Chr12:49189057 [GRCh38]
Chr12:49582840 [GRCh37]
Chr12:12q13.12
uncertain significance
NM_006009.4(TUBA1A):c.*211A>G single nucleotide variant not provided [RCV001558375] Chr12:49184799 [GRCh38]
Chr12:49578582 [GRCh37]
Chr12:12q13.12
likely benign
NM_006009.4(TUBA1A):c.663T>C (p.Arg221=) single nucleotide variant Lissencephaly, Dominant [RCV000339813] Chr12:49185703 [GRCh38]
Chr12:49579486 [GRCh37]
Chr12:12q13.12
uncertain significance
NM_006009.4(TUBA1A):c.-57G>A single nucleotide variant Lissencephaly, Dominant [RCV000262549] Chr12:49189036 [GRCh38]
Chr12:49582819 [GRCh37]
Chr12:12q13.12
likely benign
NM_001270399.1(TUBA1A):c.-663C>T single nucleotide variant Lissencephaly, Dominant [RCV000264176] Chr12:49189082 [GRCh38]
Chr12:49582865 [GRCh37]
Chr12:12q13.12
uncertain significance
NM_006009.4(TUBA1A):c.-69G>T single nucleotide variant Lissencephaly, Dominant [RCV000353767] Chr12:49189048 [GRCh38]
Chr12:49582831 [GRCh37]
Chr12:12q13.12
uncertain significance
NM_006009.4(TUBA1A):c.4-10C>T single nucleotide variant Lissencephaly, Dominant [RCV000357437] Chr12:49186843 [GRCh38]
Chr12:49580626 [GRCh37]
Chr12:12q13.12
uncertain significance
NM_006009.4(TUBA1A):c.791G>A (p.Arg264His) single nucleotide variant Lissencephaly 3 [RCV000381002]|Tubulinopathies [RCV000767451]|not provided [RCV000726002] Chr12:49185575 [GRCh38]
Chr12:49579358 [GRCh37]
Chr12:12q13.12
likely pathogenic|conflicting interpretations of pathogenicity
NM_006009.4(TUBA1A):c.390G>C (p.Thr130=) single nucleotide variant not provided [RCV000993527] Chr12:49185976 [GRCh38]
Chr12:49579759 [GRCh37]
Chr12:12q13.12
benign|uncertain significance
NM_006009.4(TUBA1A):c.640C>A (p.Arg214Ser) single nucleotide variant not provided [RCV000400831] Chr12:49185726 [GRCh38]
Chr12:49579509 [GRCh37]
Chr12:12q13.12
uncertain significance
NM_006009.4(TUBA1A):c.379G>A (p.Asp127Asn) single nucleotide variant Inborn genetic diseases [RCV000622288]|Tubulinopathies [RCV000767512]|not provided [RCV000489384] Chr12:49185987 [GRCh38]
Chr12:49579770 [GRCh37]
Chr12:12q13.12
pathogenic|likely pathogenic|uncertain significance
NM_006009.4(TUBA1A):c.1216C>G (p.His406Asp) single nucleotide variant Congenital bilateral perisylvian syndrome [RCV001270021] Chr12:49185150 [GRCh38]
Chr12:49578933 [GRCh37]
Chr12:12q13.12
pathogenic
NM_006009.4(TUBA1A):c.1076C>T (p.Pro359Leu) single nucleotide variant Tubulinopathies [RCV000767445]|not provided [RCV000488951] Chr12:49185290 [GRCh38]
Chr12:49579073 [GRCh37]
Chr12:12q13.12
likely pathogenic
NM_006009.4(TUBA1A):c.1148C>A (p.Ala383Asp) single nucleotide variant Tubulinopathies [RCV000767440]|not provided [RCV000488967] Chr12:49185218 [GRCh38]
Chr12:49579001 [GRCh37]
Chr12:12q13.12
pathogenic|likely pathogenic
NM_006009.4(TUBA1A):c.344T>C (p.Ile115Thr) single nucleotide variant Inborn genetic diseases [RCV001266746]|not provided [RCV000489000] Chr12:49186341 [GRCh38]
Chr12:49580124 [GRCh37]
Chr12:12q13.12
likely pathogenic|uncertain significance
NM_006009.4(TUBA1A):c.376-10T>A single nucleotide variant Lissencephaly, Dominant [RCV000351145] Chr12:49186000 [GRCh38]
Chr12:49579783 [GRCh37]
Chr12:12q13.12
uncertain significance
NM_006009.4(TUBA1A):c.1096G>A (p.Gly366Arg) single nucleotide variant Tubulinopathies [RCV000767417]|not provided [RCV000522300] Chr12:49185270 [GRCh38]
Chr12:49579053 [GRCh37]
Chr12:12q13.12
pathogenic|likely pathogenic
NM_006009.4(TUBA1A):c.-64G>A single nucleotide variant Lissencephaly, Dominant [RCV000299019] Chr12:49189043 [GRCh38]
Chr12:49582826 [GRCh37]
Chr12:12q13.12
uncertain significance
NM_006009.4(TUBA1A):c.-99A>T single nucleotide variant Lissencephaly, Dominant [RCV000377363] Chr12:49189078 [GRCh38]
Chr12:49582861 [GRCh37]
Chr12:12q13.12
uncertain significance
NM_001270399.1(TUBA1A):c.-766A>G single nucleotide variant Lissencephaly, Dominant [RCV000328687] Chr12:49189185 [GRCh38]
Chr12:49582968 [GRCh37]
Chr12:12q13.12
uncertain significance
NM_006009.4(TUBA1A):c.1082C>T (p.Thr361Ile) single nucleotide variant Inborn genetic diseases [RCV000623293] Chr12:49185284 [GRCh38]
Chr12:49579067 [GRCh37]
Chr12:12q13.12
likely pathogenic|uncertain significance
NM_006009.4(TUBA1A):c.916G>T (p.Asp306Tyr) single nucleotide variant Tubulinopathies [RCV000767458]|not provided [RCV000523826] Chr12:49185450 [GRCh38]
Chr12:49579233 [GRCh37]
Chr12:12q13.12
likely pathogenic
NM_006009.4(TUBA1A):c.733G>A (p.Asp245Asn) single nucleotide variant not provided [RCV000523967] Chr12:49185633 [GRCh38]
Chr12:49579416 [GRCh37]
Chr12:12q13.12
uncertain significance
NM_006009.4(TUBA1A):c.652G>A (p.Asp218Asn) single nucleotide variant Dandy-Walker syndrome [RCV001258014]|Inborn genetic diseases [RCV000623405]|Lissencephaly 3 [RCV000779653]|Lissencephaly 3 [RCV001262357]|Tubulinopathies [RCV000767505]|not provided [RCV000414596] Chr12:49185714 [GRCh38]
Chr12:49579497 [GRCh37]
Chr12:12q13.12
pathogenic|likely pathogenic
NM_006009.4(TUBA1A):c.641G>A (p.Arg214His) single nucleotide variant Lissencephaly 3 [RCV000496159]|Tubulinopathies [RCV000767423]|not provided [RCV000413283] Chr12:49185725 [GRCh38]
Chr12:49579508 [GRCh37]
Chr12:12q13.12
pathogenic|likely pathogenic
NM_006009.4(TUBA1A):c.455T>A (p.Leu152Gln) single nucleotide variant Tubulinopathies [RCV000767509]|not provided [RCV000445112] Chr12:49185911 [GRCh38]
Chr12:49579694 [GRCh37]
Chr12:12q13.12
likely pathogenic
NM_006009.4(TUBA1A):c.1227T>G (p.Val409=) single nucleotide variant not provided [RCV000904416]|not specified [RCV000427848] Chr12:49185139 [GRCh38]
Chr12:49578922 [GRCh37]
Chr12:12q13.12
likely benign
NM_006009.4(TUBA1A):c.1044C>T (p.Pro348=) single nucleotide variant not provided [RCV000887453]|not specified [RCV000441877] Chr12:49185322 [GRCh38]
Chr12:49579105 [GRCh37]
Chr12:12q13.12
benign|likely benign
NM_006009.4(TUBA1A):c.1246G>A (p.Gly416Ser) single nucleotide variant TUBA1A-associated tubulinopathy [RCV001265592]|Tubulinopathies [RCV000767501]|not provided [RCV000417564] Chr12:49185120 [GRCh38]
Chr12:49578903 [GRCh37]
Chr12:12q13.12
likely pathogenic
NM_006009.4(TUBA1A):c.1177C>T (p.His393Tyr) single nucleotide variant Tubulinopathies [RCV000767438]|Tubulinopathy [RCV000505207] Chr12:49185189 [GRCh38]
Chr12:49578972 [GRCh37]
Chr12:12q13.12
pathogenic|likely pathogenic
NM_006009.4(TUBA1A):c.17C>G (p.Ser6Cys) single nucleotide variant Tubulinopathies [RCV000767454]|not provided [RCV000423889] Chr12:49186820 [GRCh38]
Chr12:49580603 [GRCh37]
Chr12:12q13.12
pathogenic|likely pathogenic
NM_006009.4(TUBA1A):c.79G>C (p.Glu27Gln) single nucleotide variant Tubulinopathies [RCV000767421]|not provided [RCV000425962] Chr12:49186758 [GRCh38]
Chr12:49580541 [GRCh37]
Chr12:12q13.12
pathogenic
NM_006009.4(TUBA1A):c.1230G>T (p.Gly410=) single nucleotide variant not specified [RCV000440417] Chr12:49185136 [GRCh38]
Chr12:49578919 [GRCh37]
Chr12:12q13.12
likely benign
NM_006009.4(TUBA1A):c.1257A>G (p.Ser419=) single nucleotide variant not specified [RCV000426993] Chr12:49185109 [GRCh38]
Chr12:49578892 [GRCh37]
Chr12:12q13.12
likely benign
GRCh37/hg19 12q11-13.12(chr12:37857750-49791459)x3 copy number gain See cases [RCV000448835] Chr12:37857750..49791459 [GRCh37]
Chr12:12q11-13.12
pathogenic
NM_006009.4(TUBA1A):c.53A>G (p.Asn18Ser) single nucleotide variant Lissencephaly 3 [RCV001376064]|Tubulinopathies [RCV000767453]|not provided [RCV000482824]|not specified [RCV000501252] Chr12:49186784 [GRCh38]
Chr12:49580567 [GRCh37]
Chr12:12q13.12
pathogenic|likely pathogenic|uncertain significance
NM_006009.4(TUBA1A):c.*1del (p.Ter452=) deletion not provided [RCV000714135]|not specified [RCV000485257] Chr12:49185009 [GRCh38]
Chr12:49578792 [GRCh37]
Chr12:12q13.12
likely benign|uncertain significance
NM_006009.4(TUBA1A):c.1168C>T (p.Arg390Cys) single nucleotide variant Rare genetic intellectual disability [RCV001257007]|Tubulinopathies [RCV000767411]|not provided [RCV000483973] Chr12:49185198 [GRCh38]
Chr12:49578981 [GRCh37]
Chr12:12q13.12
pathogenic|likely pathogenic
NM_006009.4(TUBA1A):c.715A>C (p.Thr239Pro) single nucleotide variant Tubulinopathies [RCV000767503]|not provided [RCV000479503] Chr12:49185651 [GRCh38]
Chr12:49579434 [GRCh37]
Chr12:12q13.12
likely pathogenic
NM_006009.4(TUBA1A):c.815A>G (p.Tyr272Cys) single nucleotide variant Tubulinopathies [RCV000767450]|not provided [RCV000486639] Chr12:49185551 [GRCh38]
Chr12:49579334 [GRCh37]
Chr12:12q13.12
likely pathogenic
NM_006009.4(TUBA1A):c.1169G>C (p.Arg390Pro) single nucleotide variant Lissencephaly 3 [RCV000770768]|Tubulinopathies [RCV000767439]|not provided [RCV000486649] Chr12:49185197 [GRCh38]
Chr12:49578980 [GRCh37]
Chr12:12q13.12
pathogenic|likely pathogenic
NM_006009.4(TUBA1A):c.190C>T (p.Arg64Trp) single nucleotide variant Tubulinopathies [RCV000767424]|not provided [RCV000486860] Chr12:49186647 [GRCh38]
Chr12:49580430 [GRCh37]
Chr12:12q13.12
pathogenic
NM_006009.4(TUBA1A):c.82C>T (p.His28Tyr) single nucleotide variant Lissencephaly 3 [RCV001253098]|Tubulinopathies [RCV000767452]|not provided [RCV000498733] Chr12:49186755 [GRCh38]
Chr12:49580538 [GRCh37]
Chr12:12q13.12
likely pathogenic|uncertain significance
NM_006009.4(TUBA1A):c.139G>C (p.Asp47His) single nucleotide variant Tubulinopathies [RCV000767517]|not provided [RCV000498855] Chr12:49186698 [GRCh38]
Chr12:49580481 [GRCh37]
Chr12:12q13.12
likely pathogenic
NM_006009.4(TUBA1A):c.378C>T (p.Ala126=) single nucleotide variant not provided [RCV000981202]|not specified [RCV000503726] Chr12:49185988 [GRCh38]
Chr12:49579771 [GRCh37]
Chr12:12q13.12
likely benign
NM_006009.4(TUBA1A):c.368G>A (p.Arg123His) single nucleotide variant Lissencephaly 3 [RCV000504134]|Tubulinopathies [RCV000767487] Chr12:49186317 [GRCh38]
Chr12:49580100 [GRCh37]
Chr12:12q13.12
pathogenic|likely pathogenic
NM_006009.4(TUBA1A):c.1304T>C (p.Val435Ala) single nucleotide variant Lissencephaly 3 [RCV000504161]|Tubulinopathies [RCV000767500] Chr12:49185062 [GRCh38]
Chr12:49578845 [GRCh37]
Chr12:12q13.12
likely pathogenic
NM_006009.4(TUBA1A):c.1144A>G (p.Thr382Ala) single nucleotide variant Lissencephaly 3 [RCV000502059]|Tubulinopathies [RCV000767442] Chr12:49185222 [GRCh38]
Chr12:49579005 [GRCh37]
Chr12:12q13.12
likely pathogenic
NM_006009.4(TUBA1A):c.1298AGG[1] (p.Glu434del) microsatellite Lissencephaly [RCV001249347]|not specified [RCV000502086] Chr12:49185063..49185065 [GRCh38]
Chr12:49578846..49578848 [GRCh37]
Chr12:12q13.12
uncertain significance|not provided
NM_006009.4(TUBA1A):c.235C>T (p.Arg79Cys) single nucleotide variant not specified [RCV000497510] Chr12:49186450 [GRCh38]
Chr12:49580233 [GRCh37]
Chr12:12q13.12
uncertain significance
NM_006009.4(TUBA1A):c.641G>T (p.Arg214Leu) single nucleotide variant Tubulinopathies [RCV000767506]|not provided [RCV000497556] Chr12:49185725 [GRCh38]
Chr12:49579508 [GRCh37]
Chr12:12q13.12
pathogenic|likely pathogenic
NM_006009.4(TUBA1A):c.919C>T (p.Pro307Ser) single nucleotide variant Tubulinopathies [RCV000767448]|not provided [RCV000497595] Chr12:49185447 [GRCh38]
Chr12:49579230 [GRCh37]
Chr12:12q13.12
likely pathogenic
NM_006009.4(TUBA1A):c.424G>T (p.Gly142Cys) single nucleotide variant Tubulinopathies [RCV000767511]|not provided [RCV000497965] Chr12:49185942 [GRCh38]
Chr12:49579725 [GRCh37]
Chr12:12q13.12
likely pathogenic
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_006009.4(TUBA1A):c.819C>T (p.Ala273=) single nucleotide variant not specified [RCV000500642] Chr12:49185547 [GRCh38]
Chr12:49579330 [GRCh37]
Chr12:12q13.12
likely benign
NM_006009.4(TUBA1A):c.1091C>G (p.Pro364Arg) single nucleotide variant Tubulinopathies [RCV000767444]|not provided [RCV000493462] Chr12:49185275 [GRCh38]
Chr12:49579058 [GRCh37]
Chr12:12q13.12
likely pathogenic
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_006009.4(TUBA1A):c.427G>A (p.Gly143Arg) single nucleotide variant Tubulinopathies [RCV000767510]|not provided [RCV000493928] Chr12:49185939 [GRCh38]
Chr12:49579722 [GRCh37]
Chr12:12q13.12
likely pathogenic
NM_006009.4(TUBA1A):c.887T>C (p.Phe296Ser) single nucleotide variant Tubulinopathies [RCV000767449]|not provided [RCV000493300] Chr12:49185479 [GRCh38]
Chr12:49579262 [GRCh37]
Chr12:12q13.12
likely pathogenic
NM_006009.4(TUBA1A):c.1247G>A (p.Gly416Asp) single nucleotide variant Lissencephaly 3 [RCV000722177] Chr12:49185119 [GRCh38]
Chr12:49578902 [GRCh37]
Chr12:12q13.12
uncertain significance
NM_006009.4(TUBA1A):c.920C>T (p.Pro307Leu) single nucleotide variant Lissencephaly 3 [RCV000656091]|Tubulinopathies [RCV000767520] Chr12:49185446 [GRCh38]
Chr12:49579229 [GRCh37]
Chr12:12q13.12
pathogenic|likely pathogenic
NM_006009.4(TUBA1A):c.959G>A (p.Arg320His) single nucleotide variant Inborn genetic diseases [RCV000624293]|Tubulinopathies [RCV000767435] Chr12:49185407 [GRCh38]
Chr12:49579190 [GRCh37]
Chr12:12q13.12
pathogenic|likely pathogenic
NM_006009.4(TUBA1A):c.227-17C>G single nucleotide variant not specified [RCV000601423] Chr12:49186475 [GRCh38]
Chr12:49580258 [GRCh37]
Chr12:12q13.12
likely benign
NM_006009.4(TUBA1A):c.4-4A>G single nucleotide variant not specified [RCV000613293] Chr12:49186837 [GRCh38]
Chr12:49580620 [GRCh37]
Chr12:12q13.12
likely benign
NM_006009.4(TUBA1A):c.424G>A (p.Gly142Ser) single nucleotide variant Inborn genetic diseases [RCV000623419]|Tubulinopathies [RCV000767523] Chr12:49185942 [GRCh38]
Chr12:49579725 [GRCh37]
Chr12:12q13.12
pathogenic|likely pathogenic
NM_006009.4(TUBA1A):c.283G>T (p.Gly95Cys) single nucleotide variant Inborn genetic diseases [RCV000623886]|Tubulinopathies [RCV000767498] Chr12:49186402 [GRCh38]
Chr12:49580185 [GRCh37]
Chr12:12q13.12
pathogenic
NM_006009.4(TUBA1A):c.520G>C (p.Ala174Pro) single nucleotide variant not provided [RCV000658151] Chr12:49185846 [GRCh38]
Chr12:49579629 [GRCh37]
Chr12:12q13.12
likely pathogenic
NM_006009.4(TUBA1A):c.321C>G (p.His107Gln) single nucleotide variant Lissencephaly 3 [RCV000681646] Chr12:49186364 [GRCh38]
Chr12:49580147 [GRCh37]
Chr12:12q13.12
likely pathogenic
GRCh37/hg19 12q13.12(chr12:49191810-49630201)x3 copy number gain not provided [RCV000683434] Chr12:49191810..49630201 [GRCh37]
Chr12:12q13.12
uncertain significance
NM_006009.4(TUBA1A):c.1230G>C (p.Gly410=) single nucleotide variant not provided [RCV000714136] Chr12:49185136 [GRCh38]
Chr12:49578919 [GRCh37]
Chr12:12q13.12
likely benign
NM_006009.4(TUBA1A):c.1151T>A (p.Ile384Asn) single nucleotide variant Lissencephaly 3 [RCV000709953] Chr12:49185215 [GRCh38]
Chr12:49578998 [GRCh37]
Chr12:12q13.12
not provided
NC_000012.11:g.26370251_54361538inv inversion not specified [RCV000714265] Chr12:26370251..54361538 [GRCh37]
Chr12:12p12.1-q13.13
uncertain significance
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
NM_006009.4(TUBA1A):c.640C>T (p.Arg214Cys) single nucleotide variant not provided [RCV001546387] Chr12:49185726 [GRCh38]
Chr12:49579509 [GRCh37]
Chr12:12q13.12
pathogenic
NM_006009.4(TUBA1A):c.1291G>A (p.Asp431Asn) single nucleotide variant not provided [RCV000761828] Chr12:49185075 [GRCh38]
Chr12:49578858 [GRCh37]
Chr12:12q13.12
uncertain significance
NM_006009.4(TUBA1A):c.962G>A (p.Gly321Asp) single nucleotide variant Lissencephaly 3 [RCV000760230] Chr12:49185404 [GRCh38]
Chr12:49579187 [GRCh37]
Chr12:12q13.12
likely pathogenic
NM_006009.4(TUBA1A):c.1232A>G (p.Glu411Gly) single nucleotide variant Lissencephaly 3 [RCV000760263] Chr12:49185134 [GRCh38]
Chr12:49578917 [GRCh37]
Chr12:12q13.12
uncertain significance
NM_006009.4(TUBA1A):c.817G>A (p.Ala273Thr) single nucleotide variant not provided [RCV000994916] Chr12:49185549 [GRCh38]
Chr12:49579332 [GRCh37]
Chr12:12q13.12
uncertain significance
NM_006009.4(TUBA1A):c.3+103C>T single nucleotide variant not provided [RCV001575890] Chr12:49188874 [GRCh38]
Chr12:49582657 [GRCh37]
Chr12:12q13.12
likely benign
NM_006009.4(TUBA1A):c.74G>A (p.Cys25Tyr) single nucleotide variant Lissencephaly 3 [RCV000985164] Chr12:49186763 [GRCh38]
Chr12:49580546 [GRCh37]
Chr12:12q13.12
likely pathogenic
NM_006009.4(TUBA1A):c.3+9C>A single nucleotide variant not provided [RCV000921147] Chr12:49188968 [GRCh38]
Chr12:49582751 [GRCh37]
Chr12:12q13.12
likely benign
NM_006009.4(TUBA1A):c.24C>T (p.His8=) single nucleotide variant not provided [RCV000922236] Chr12:49186813 [GRCh38]
Chr12:49580596 [GRCh37]
Chr12:12q13.12
likely benign
NM_006009.4(TUBA1A):c.209T>C (p.Leu70Ser) single nucleotide variant Tubulinopathies [RCV000767415] Chr12:49186628 [GRCh38]
Chr12:49580411 [GRCh37]
Chr12:12q13.12
pathogenic
NM_006009.4(TUBA1A):c.4C>A (p.Arg2Ser) single nucleotide variant Tubulinopathies [RCV000767427] Chr12:49186833 [GRCh38]
Chr12:49580616 [GRCh37]
Chr12:12q13.12
pathogenic
NM_006009.4(TUBA1A):c.712A>G (p.Ile238Val) single nucleotide variant Tubulinopathies [RCV000767430] Chr12:49185654 [GRCh38]
Chr12:49579437 [GRCh37]
Chr12:12q13.12
likely pathogenic
NM_006009.4(TUBA1A):c.1285G>C (p.Glu429Gln) single nucleotide variant Tubulinopathies [RCV000767434] Chr12:49185081 [GRCh38]
Chr12:49578864 [GRCh37]
Chr12:12q13.12
pathogenic
NM_006009.4(TUBA1A):c.544G>T (p.Val182Phe) single nucleotide variant Tubulinopathies [RCV000767461] Chr12:49185822 [GRCh38]
Chr12:49579605 [GRCh37]
Chr12:12q13.12
likely pathogenic
NM_006009.4(TUBA1A):c.26T>C (p.Val9Ala) single nucleotide variant not provided [RCV001268107] Chr12:49186811 [GRCh38]
Chr12:49580594 [GRCh37]
Chr12:12q13.12
pathogenic|likely pathogenic
NM_006009.4(TUBA1A):c.433A>G (p.Thr145Ala) single nucleotide variant Tubulinopathies [RCV000767465] Chr12:49185933 [GRCh38]
Chr12:49579716 [GRCh37]
Chr12:12q13.12
pathogenic
NM_006009.4(TUBA1A):c.1007A>G (p.Lys336Arg) single nucleotide variant Tubulinopathies [RCV000767467] Chr12:49185359 [GRCh38]
Chr12:49579142 [GRCh37]
Chr12:12q13.12
pathogenic
NM_006009.4(TUBA1A):c.1225G>A (p.Val409Ile) single nucleotide variant Tubulinopathies [RCV000767481]|not provided [RCV001547766] Chr12:49185141 [GRCh38]
Chr12:49578924 [GRCh37]
Chr12:12q13.12
pathogenic
NM_006009.4(TUBA1A):c.161G>A (p.Ser54Asn) single nucleotide variant Tubulinopathies [RCV000767484] Chr12:49186676 [GRCh38]
Chr12:49580459 [GRCh37]
Chr12:12q13.12
pathogenic
NM_006009.4(TUBA1A):c.518C>T (p.Pro173Leu) single nucleotide variant Tubulinopathies [RCV000767490]|not provided [RCV001528974] Chr12:49185848 [GRCh38]
Chr12:49579631 [GRCh37]
Chr12:12q13.12
pathogenic|likely pathogenic
NM_006009.4(TUBA1A):c.1112T>A (p.Val371Glu) single nucleotide variant Tubulinopathies [RCV000767493] Chr12:49185254 [GRCh38]
Chr12:49579037 [GRCh37]
Chr12:12q13.12
pathogenic
NM_006009.4(TUBA1A):c.215C>G (p.Pro72Arg) single nucleotide variant Tubulinopathies [RCV000767499] Chr12:49186622 [GRCh38]
Chr12:49580405 [GRCh37]
Chr12:12q13.12
pathogenic
NM_006009.4(TUBA1A):c.172G>C (p.Ala58Pro) single nucleotide variant Tubulinopathies [RCV000767519] Chr12:49186665 [GRCh38]
Chr12:49580448 [GRCh37]
Chr12:12q13.12
pathogenic
NM_006009.4(TUBA1A):c.746A>G (p.Asn249Ser) single nucleotide variant Lissencephaly 3 [RCV001072148] Chr12:49185620 [GRCh38]
Chr12:49579403 [GRCh37]
Chr12:12q13.12
likely pathogenic
NM_006009.4(TUBA1A):c.958C>T (p.Arg320Cys) single nucleotide variant Lissencephaly 3 [RCV001072149] Chr12:49185408 [GRCh38]
Chr12:49579191 [GRCh37]
Chr12:12q13.12
pathogenic
NM_006009.4(TUBA1A):c.1182G>C (p.Lys394Asn) single nucleotide variant Lissencephaly 3 [RCV001072150] Chr12:49185184 [GRCh38]
Chr12:49578967 [GRCh37]
Chr12:12q13.12
uncertain significance
NM_006009.4(TUBA1A):c.180G>T (p.Lys60Asn) single nucleotide variant Congenital cerebellar hypoplasia [RCV001258015]|Lissencephaly 3 [RCV000779654] Chr12:49186657 [GRCh38]
Chr12:49580440 [GRCh37]
Chr12:12q13.12
likely pathogenic
NM_006009.4(TUBA1A):c.998C>T (p.Ala333Val) single nucleotide variant Tubulinopathies [RCV000767416] Chr12:49185368 [GRCh38]
Chr12:49579151 [GRCh37]
Chr12:12q13.12
pathogenic
NM_006009.4(TUBA1A):c.703G>T (p.Val235Leu) single nucleotide variant Tubulinopathies [RCV000767419] Chr12:49185663 [GRCh38]
Chr12:49579446 [GRCh37]
Chr12:12q13.12
pathogenic
NM_006009.4(TUBA1A):c.908T>G (p.Val303Gly) single nucleotide variant Tubulinopathies [RCV000767431] Chr12:49185458 [GRCh38]
Chr12:49579241 [GRCh37]
Chr12:12q13.12
pathogenic
NM_006009.4(TUBA1A):c.1186G>T (p.Asp396Tyr) single nucleotide variant Tubulinopathies [RCV000767483] Chr12:49185180 [GRCh38]
Chr12:49578963 [GRCh37]
Chr12:12q13.12
pathogenic
NM_006009.4(TUBA1A):c.320A>G (p.His107Arg) single nucleotide variant Tubulinopathies [RCV000767489] Chr12:49186365 [GRCh38]
Chr12:49580148 [GRCh37]
Chr12:12q13.12
pathogenic
NM_006009.4(TUBA1A):c.565C>G (p.Leu189Val) single nucleotide variant Tubulinopathies [RCV000767518] Chr12:49185801 [GRCh38]
Chr12:49579584 [GRCh37]
Chr12:12q13.12
pathogenic
NM_006009.4(TUBA1A):c.381C>A (p.Asp127Glu) single nucleotide variant Tubulinopathies [RCV000767521] Chr12:49185985 [GRCh38]
Chr12:49579768 [GRCh37]
Chr12:12q13.12
pathogenic
NM_006009.4(TUBA1A):c.629A>G (p.Tyr210Cys) single nucleotide variant Tubulinopathies [RCV000767413]|not provided [RCV001388958] Chr12:49185737 [GRCh38]
Chr12:49579520 [GRCh37]
Chr12:12q13.12
pathogenic
NM_006009.4(TUBA1A):c.1057G>A (p.Val353Ile) single nucleotide variant Tubulinopathies [RCV000767420] Chr12:49185309 [GRCh38]
Chr12:49579092 [GRCh37]
Chr12:12q13.12
likely pathogenic
NM_006009.4(TUBA1A):c.418A>G (p.Ser140Gly) single nucleotide variant Tubulinopathies [RCV000767463] Chr12:49185948 [GRCh38]
Chr12:49579731 [GRCh37]
Chr12:12q13.12
likely pathogenic
NM_006009.4(TUBA1A):c.652G>T (p.Asp218Tyr) single nucleotide variant Tubulinopathies [RCV000767472] Chr12:49185714 [GRCh38]
Chr12:49579497 [GRCh37]
Chr12:12q13.12
pathogenic
NM_006009.4(TUBA1A):c.1307G>A (p.Gly436Asp) single nucleotide variant Tubulinopathies [RCV000767491] Chr12:49185059 [GRCh38]
Chr12:49578842 [GRCh37]
Chr12:12q13.12
pathogenic
NM_006009.4(TUBA1A):c.167C>T (p.Thr56Met) single nucleotide variant Lissencephaly 3 [RCV000850518]|Tubulinopathies [RCV000767492]|not provided [RCV001567200] Chr12:49186670 [GRCh38]
Chr12:49580453 [GRCh37]
Chr12:12q13.12
pathogenic
NM_006009.4(TUBA1A):c.849T>C (p.His283=) single nucleotide variant not provided [RCV000888358] Chr12:49185517 [GRCh38]
Chr12:49579300 [GRCh37]
Chr12:12q13.12
likely benign
NM_006009.4(TUBA1A):c.74G>T (p.Cys25Phe) single nucleotide variant Tubulinopathies [RCV000767425] Chr12:49186763 [GRCh38]
Chr12:49580546 [GRCh37]
Chr12:12q13.12
pathogenic
NM_006009.4(TUBA1A):c.856C>T (p.Leu286Phe) single nucleotide variant Tubulinopathies [RCV000767428] Chr12:49185510 [GRCh38]
Chr12:49579293 [GRCh37]
Chr12:12q13.12
likely pathogenic
NM_006009.4(TUBA1A):c.274C>G (p.Leu92Val) single nucleotide variant Tubulinopathies [RCV000767432] Chr12:49186411 [GRCh38]
Chr12:49580194 [GRCh37]
Chr12:12q13.12
pathogenic
NM_006009.4(TUBA1A):c.691A>C (p.Ile231Leu) single nucleotide variant Tubulinopathies [RCV000767464] Chr12:49185675 [GRCh38]
Chr12:49579458 [GRCh37]
Chr12:12q13.12
likely pathogenic
NM_006009.4(TUBA1A):c.1160C>T (p.Ala387Val) single nucleotide variant Tubulinopathies [RCV000767478] Chr12:49185206 [GRCh38]
Chr12:49578989 [GRCh37]
Chr12:12q13.12
pathogenic
NM_006009.4(TUBA1A):c.337G>A (p.Glu113Lys) single nucleotide variant Tubulinopathies [RCV000767480] Chr12:49186348 [GRCh38]
Chr12:49580131 [GRCh37]
Chr12:12q13.12
pathogenic
NM_006009.4(TUBA1A):c.214C>T (p.Pro72Ser) single nucleotide variant Tubulinopathies [RCV000767495] Chr12:49186623 [GRCh38]
Chr12:49580406 [GRCh37]
Chr12:12q13.12
pathogenic
NM_006009.4(TUBA1A):c.473C>T (p.Ser158Leu) single nucleotide variant Tubulinopathies [RCV000767497] Chr12:49185893 [GRCh38]
Chr12:49579676 [GRCh37]
Chr12:12q13.12
pathogenic
NM_006009.4(TUBA1A):c.1341del (p.Gly448fs) deletion Tubulinopathies [RCV000767412] Chr12:49185025 [GRCh38]
Chr12:49578808 [GRCh37]
Chr12:12q13.12
likely pathogenic
NM_006009.4(TUBA1A):c.163G>A (p.Glu55Lys) single nucleotide variant Tubulinopathies [RCV000767407] Chr12:49186674 [GRCh38]
Chr12:49580457 [GRCh37]
Chr12:12q13.12
pathogenic
NM_006009.4(TUBA1A):c.481T>C (p.Tyr161His) single nucleotide variant Tubulinopathies [RCV000767418] Chr12:49185885 [GRCh38]
Chr12:49579668 [GRCh37]
Chr12:12q13.12
pathogenic
NM_006009.4(TUBA1A):c.655A>G (p.Ile219Val) single nucleotide variant Tubulinopathies [RCV000767422] Chr12:49185711 [GRCh38]
Chr12:49579494 [GRCh37]
Chr12:12q13.12
likely pathogenic
NM_006009.4(TUBA1A):c.978A>C (p.Lys326Asn) single nucleotide variant Tubulinopathies [RCV000767433] Chr12:49185388 [GRCh38]
Chr12:49579171 [GRCh37]
Chr12:12q13.12
pathogenic
NM_006009.4(TUBA1A):c.40G>A (p.Val14Ile) single nucleotide variant Tubulinopathies [RCV000767460] Chr12:49186797 [GRCh38]
Chr12:49580580 [GRCh37]
Chr12:12q13.12
likely pathogenic
NM_006009.4(TUBA1A):c.734A>G (p.Asp245Gly) single nucleotide variant Tubulinopathies [RCV000767466] Chr12:49185632 [GRCh38]
Chr12:49579415 [GRCh37]
Chr12:12q13.12
likely pathogenic
NM_006009.4(TUBA1A):c.1306G>C (p.Gly436Arg) single nucleotide variant Tubulinopathies [RCV000767470] Chr12:49185060 [GRCh38]
Chr12:49578843 [GRCh37]
Chr12:12q13.12
pathogenic
NM_006009.4(TUBA1A):c.410T>A (p.Val137Asp) single nucleotide variant Tubulinopathies [RCV000767471] Chr12:49185956 [GRCh38]
Chr12:49579739 [GRCh37]
Chr12:12q13.12
likely pathogenic
NM_006009.4(TUBA1A):c.808G>A (p.Ala270Thr) single nucleotide variant Tubulinopathies [RCV000767473] Chr12:49185558 [GRCh38]
Chr12:49579341 [GRCh37]
Chr12:12q13.12
likely pathogenic
NM_006009.4(TUBA1A):c.599G>A (p.Cys200Tyr) single nucleotide variant Tubulinopathies [RCV000767477] Chr12:49185767 [GRCh38]
Chr12:49579550 [GRCh37]
Chr12:12q13.12
pathogenic
NM_006009.4(TUBA1A):c.175G>A (p.Gly59Ser) single nucleotide variant Tubulinopathies [RCV000767485] Chr12:49186662 [GRCh38]
Chr12:49580445 [GRCh37]
Chr12:12q13.12
pathogenic
NM_006009.4(TUBA1A):c.352G>C (p.Val118Leu) single nucleotide variant Tubulinopathies [RCV000767486] Chr12:49186333 [GRCh38]
Chr12:49580116 [GRCh37]
Chr12:12q13.12
pathogenic
NM_006009.4(TUBA1A):c.449C>T (p.Thr150Ile) single nucleotide variant Tubulinopathies [RCV000767488]|not provided [RCV001550367] Chr12:49185917 [GRCh38]
Chr12:49579700 [GRCh37]
Chr12:12q13.12
pathogenic
NM_006009.4(TUBA1A):c.302A>G (p.Asn101Ser) single nucleotide variant Tubulinopathies [RCV000767494] Chr12:49186383 [GRCh38]
Chr12:49580166 [GRCh37]
Chr12:12q13.12
pathogenic
NM_006009.4(TUBA1A):c.1329G>A (p.Glu443=) single nucleotide variant not provided [RCV000976632] Chr12:49185037 [GRCh38]
Chr12:49578820 [GRCh37]
Chr12:12q13.12
benign
NM_006009.4(TUBA1A):c.217A>G (p.Thr73Ala) single nucleotide variant Lissencephaly 3 [RCV000850184] Chr12:49186620 [GRCh38]
Chr12:49580403 [GRCh37]
Chr12:12q13.12
likely pathogenic
NM_006009.4(TUBA1A):c.1261G>A (p.Ala421Thr) single nucleotide variant Lissencephaly 3 [RCV000988844] Chr12:49185105 [GRCh38]
Chr12:49578888 [GRCh37]
Chr12:12q13.12
likely pathogenic
NM_006009.4(TUBA1A):c.1049G>T (p.Gly350Val) single nucleotide variant Lissencephaly 3 [RCV001095662] Chr12:49185317 [GRCh38]
Chr12:49579100 [GRCh37]
Chr12:12q13.12
likely pathogenic
NM_006009.4(TUBA1A):c.324C>T (p.Tyr108=) single nucleotide variant not provided [RCV000927180] Chr12:49186361 [GRCh38]
Chr12:49580144 [GRCh37]
Chr12:12q13.12
likely benign
NM_006009.4(TUBA1A):c.330T>C (p.Ile110=) single nucleotide variant not provided [RCV000912921] Chr12:49186355 [GRCh38]
Chr12:49580138 [GRCh37]
Chr12:12q13.12
likely benign
NM_006009.4(TUBA1A):c.3+157CGC[5] microsatellite not provided [RCV001566099] Chr12:49188808..49188809 [GRCh38]
Chr12:49582591..49582592 [GRCh37]
Chr12:12q13.12
likely benign
NM_006009.4(TUBA1A):c.376-149G>A single nucleotide variant not provided [RCV001537130] Chr12:49186139 [GRCh38]
Chr12:49579922 [GRCh37]
Chr12:12q13.12
likely benign
NM_006009.4(TUBA1A):c.362G>A (p.Arg121Gln) single nucleotide variant Lissencephaly 3 [RCV001528134] Chr12:49186323 [GRCh38]
Chr12:49580106 [GRCh37]
Chr12:12q13.12
uncertain significance
NM_006009.4(TUBA1A):c.967G>A (p.Val323Met) single nucleotide variant not provided [RCV001574456] Chr12:49185399 [GRCh38]
Chr12:49579182 [GRCh37]
Chr12:12q13.12
uncertain significance
NM_006009.4(TUBA1A):c.47T>C (p.Ile16Thr) single nucleotide variant Lissencephaly 3 [RCV001095672] Chr12:49186790 [GRCh38]
Chr12:49580573 [GRCh37]
Chr12:12q13.12
likely pathogenic
NM_006009.4(TUBA1A):c.878A>G (p.Asn293Ser) single nucleotide variant Abnormality of brainstem morphology [RCV001391277]|not provided [RCV001230521] Chr12:49185488 [GRCh38]
Chr12:49579271 [GRCh37]
Chr12:12q13.12
pathogenic|likely pathogenic
NM_006009.4(TUBA1A):c.598T>C (p.Cys200Arg) single nucleotide variant Lissencephaly 3 [RCV001072147] Chr12:49185768 [GRCh38]
Chr12:49579551 [GRCh37]
Chr12:12q13.12
likely pathogenic
NM_006009.4(TUBA1A):c.701T>G (p.Ile234Ser) single nucleotide variant Lissencephaly 3 [RCV001253582] Chr12:49185665 [GRCh38]
Chr12:49579448 [GRCh37]
Chr12:12q13.12
pathogenic
NM_006009.4(TUBA1A):c.545T>C (p.Val182Ala) single nucleotide variant Lissencephaly 3 [RCV001254936] Chr12:49185821 [GRCh38]
Chr12:49579604 [GRCh37]
Chr12:12q13.12
pathogenic
NM_006009.4(TUBA1A):c.196_206delinsACGTGTGTCGC (p.Val66_Asp69delinsThrCysValAla) indel Lissencephaly 3 [RCV001255741] Chr12:49186631..49186641 [GRCh38]
Chr12:49580414..49580424 [GRCh37]
Chr12:12q13.12
likely pathogenic
NM_006009.4(TUBA1A):c.1084G>C (p.Val362Leu) single nucleotide variant Lissencephaly 3 [RCV001257558] Chr12:49185282 [GRCh38]
Chr12:49579065 [GRCh37]
Chr12:12q13.12
likely pathogenic
NM_006009.4(TUBA1A):c.236G>A (p.Arg79His) single nucleotide variant not provided [RCV001310649] Chr12:49186449 [GRCh38]
Chr12:49580232 [GRCh37]
Chr12:12q13.12
uncertain significance
NM_006009.4(TUBA1A):c.902A>G (p.Gln301Arg) single nucleotide variant Inborn genetic diseases [RCV001265716] Chr12:49185464 [GRCh38]
Chr12:49579247 [GRCh37]
Chr12:12q13.12
likely pathogenic
NM_006009.4(TUBA1A):c.631G>A (p.Asp211Asn) single nucleotide variant not provided [RCV001310648] Chr12:49185735 [GRCh38]
Chr12:49579518 [GRCh37]
Chr12:12q13.12
likely pathogenic|uncertain significance
GRCh37/hg19 12q13.11-13.12(chr12:49024019-50299974)x3 copy number gain not provided [RCV001259140] Chr12:49024019..50299974 [GRCh37]
Chr12:12q13.11-13.12
uncertain significance
NM_006009.4(TUBA1A):c.251G>A (p.Arg84His) single nucleotide variant Inborn genetic diseases [RCV001265919] Chr12:49186434 [GRCh38]
Chr12:49580217 [GRCh37]
Chr12:12q13.12
uncertain significance
NM_006009.4(TUBA1A):c.191G>A (p.Arg64Gln) single nucleotide variant Inborn genetic diseases [RCV001266910] Chr12:49186646 [GRCh38]
Chr12:49580429 [GRCh37]
Chr12:12q13.12
likely pathogenic
NM_006009.4(TUBA1A):c.385T>C (p.Cys129Arg) single nucleotide variant Lissencephaly 3 [RCV001329518] Chr12:49185981 [GRCh38]
Chr12:49579764 [GRCh37]
Chr12:12q13.12
uncertain significance
NM_006009.4(TUBA1A):c.1117A>G (p.Arg373Gly) single nucleotide variant Lissencephaly 3 [RCV001329516] Chr12:49185249 [GRCh38]
Chr12:49579032 [GRCh37]
Chr12:12q13.12
uncertain significance
NM_006009.4(TUBA1A):c.1156G>A (p.Glu386Lys) single nucleotide variant Lissencephaly 3 [RCV001329517] Chr12:49185210 [GRCh38]
Chr12:49578993 [GRCh37]
Chr12:12q13.12
likely pathogenic
NM_006009.4(TUBA1A):c.1127G>A (p.Cys376Tyr) single nucleotide variant not provided [RCV001528778] Chr12:49185239 [GRCh38]
Chr12:49579022 [GRCh37]
Chr12:12q13.12
uncertain significance
NM_006009.4(TUBA1A):c.376-1G>C single nucleotide variant not provided [RCV001280734] Chr12:49185991 [GRCh38]
Chr12:49579774 [GRCh37]
Chr12:12q13.12
uncertain significance
NM_006009.4(TUBA1A):c.377C>T (p.Ala126Val) single nucleotide variant not provided [RCV001359683] Chr12:49185989 [GRCh38]
Chr12:49579772 [GRCh37]
Chr12:12q13.12
uncertain significance
NM_006009.4(TUBA1A):c.1193T>G (p.Met398Arg) single nucleotide variant Congenital bilateral perisylvian syndrome [RCV001270023] Chr12:49185173 [GRCh38]
Chr12:49578956 [GRCh37]
Chr12:12q13.12
likely pathogenic
NM_006009.4(TUBA1A):c.467G>A (p.Arg156His) single nucleotide variant Congenital fibrosis of extraocular muscles [RCV001270022] Chr12:49185899 [GRCh38]
Chr12:49579682 [GRCh37]
Chr12:12q13.12
likely pathogenic
GRCh37/hg19 12q11-13.12(chr12:37873948-49578619)x3 copy number gain See cases [RCV001353185] Chr12:37873948..49578619 [GRCh37]
Chr12:12q11-13.12
likely pathogenic
NM_006009.4(TUBA1A):c.703G>C (p.Val235Leu) single nucleotide variant Lissencephaly 3 [RCV001329519] Chr12:49185663 [GRCh38]
Chr12:49579446 [GRCh37]
Chr12:12q13.12
likely pathogenic
NM_006009.4(TUBA1A):c.1239G>A (p.Met413Ile) single nucleotide variant not provided [RCV001378579] Chr12:49185127 [GRCh38]
Chr12:49578910 [GRCh37]
Chr12:12q13.12
likely pathogenic
NM_006009.4(TUBA1A):c.1288_1302del (p.Lys430_Glu434del) deletion Lissencephaly 3 [RCV001376034] Chr12:49185064..49185078 [GRCh38]
Chr12:49578847..49578861 [GRCh37]
Chr12:12q13.12
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:20766 AgrOrtholog
COSMIC TUBA1A COSMIC
Ensembl Genes ENSG00000167552 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000301071 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000439020 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000446613 UniProtKB/TrEMBL
  ENSP00000446637 UniProtKB/Swiss-Prot
  ENSP00000448725 ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSP00000450268 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSP00000505459 UniProtKB/TrEMBL
Ensembl Transcript ENST00000295766 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000301071 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000546918 UniProtKB/TrEMBL
  ENST00000547939 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENST00000550767 UniProtKB/Swiss-Prot
  ENST00000552924 ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENST00000679733 UniProtKB/TrEMBL
Gene3D-CATH 1.10.287.600 UniProtKB/Swiss-Prot
  3.30.1330.20 UniProtKB/Swiss-Prot
  3.40.50.1440 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000167552 GTEx
HGNC ID HGNC:20766 ENTREZGENE
Human Proteome Map TUBA1A Human Proteome Map
InterPro Alpha_tubulin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tub_FtsZ_C UniProtKB/Swiss-Prot
  Tubulin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tubulin/FtsZ_2-layer-sand-dom UniProtKB/Swiss-Prot
  Tubulin/FtsZ_C_sf UniProtKB/Swiss-Prot
  Tubulin/FtsZ_GTPase_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tubulin_C UniProtKB/Swiss-Prot
  Tubulin_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tubulin_FtsZ_GTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7846 UniProtKB/Swiss-Prot
NCBI Gene 7846 ENTREZGENE
OMIM 602529 OMIM
  611603 OMIM
PANTHER PTHR11588 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Tubulin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tubulin_C UniProtKB/Swiss-Prot
PharmGKB PA162407319 PharmGKB
PRINTS ALPHATUBULIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TUBULIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE TUBULIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Tubulin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tubulin_C UniProtKB/Swiss-Prot
Superfamily-SCOP SSF52490 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF55307 UniProtKB/Swiss-Prot
UniProt A0A7P0Z4A1_HUMAN UniProtKB/TrEMBL
  F8VQQ4_HUMAN UniProtKB/TrEMBL
  F8VRZ4_HUMAN UniProtKB/TrEMBL
  F8W0F6_HUMAN UniProtKB/TrEMBL
  Q71U36 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A8K0B8 UniProtKB/Swiss-Prot
  G3V1U9 UniProtKB/Swiss-Prot
  P04687 UniProtKB/Swiss-Prot
  P05209 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-15 TUBA1A  tubulin alpha 1a    tubulin, alpha 1a  Symbol and/or name change 5135510 APPROVED