LAMP1 (lysosomal associated membrane protein 1) - Rat Genome Database

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Gene: LAMP1 (lysosomal associated membrane protein 1) Homo sapiens
Analyze
Symbol: LAMP1
Name: lysosomal associated membrane protein 1
RGD ID: 737544
HGNC Page HGNC:6499
Description: Enables enzyme binding activity and ion channel inhibitor activity. Involved in several processes, including Golgi to lysosome transport; lysosomal lumen acidification; and positive regulation of natural killer cell degranulation. Located in several cellular components, including cytolytic granule membrane; late endosome; and perinuclear region of cytoplasm. Is active in lysosomal membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CD107 antigen-like family member A; CD107a; LAMP-1; LAMPA; LGP120; lysosomal membrane glycoprotein 1; lysosomal-associated membrane protein 1; lysosome-associated membrane glycoprotein 1; lysosome-associated membrane protein 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: AC090415.1   AL050305.1   LAMP1P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3813113,297,239 - 113,323,672 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl13113,297,239 - 113,323,672 (+)EnsemblGRCh38hg38GRCh38
GRCh3713113,951,554 - 113,977,987 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3613112,999,470 - 113,025,742 (+)NCBINCBI36Build 36hg18NCBI36
Build 3413112,999,602 - 113,025,741NCBI
Celera1394,778,100 - 94,804,252 (+)NCBICelera
Cytogenetic Map13q34NCBI
HuRef1394,390,382 - 94,416,378 (+)NCBIHuRef
CHM1_113113,920,516 - 113,946,732 (+)NCBICHM1_1
T2T-CHM13v2.013112,550,907 - 112,577,228 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1,1-trichloro-2,2-bis(4-hydroxyphenyl)ethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1,3-dichloropropan-2-ol  (EXP)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (ISO)
17beta-estradiol  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-methylcholine  (EXP)
3',5'-cyclic AMP  (ISO)
3-chloropropane-1,2-diol  (EXP)
3-methyladenine  (EXP,ISO)
4,4'-diaminodiphenylmethane  (ISO)
4-hydroxynon-2-enal  (EXP)
aconitine  (ISO)
acrolein  (ISO)
acrylamide  (EXP,ISO)
aldehydo-D-glucose  (ISO)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
antimycin A  (EXP)
Aroclor 1254  (ISO)
arsenite(3-)  (EXP)
arsenous acid  (EXP,ISO)
azoxystrobin  (EXP)
bafilomycin A1  (ISO)
benzo[a]pyrene  (EXP,ISO)
biotin  (EXP)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
Brusatol  (ISO)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP,ISO)
cannabidiol  (EXP)
captan  (ISO)
carbamazepine  (ISO)
carbon disulfide  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
CHIR 99021  (ISO)
chloropicrin  (EXP)
cholesterol  (EXP)
clofibrate  (ISO)
clozapine  (EXP)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) chloride  (ISO)
coumestrol  (EXP)
Cuprizon  (ISO)
curcumin  (EXP,ISO)
D-glucose  (ISO)
decabromodiphenyl ether  (ISO)
deguelin  (EXP)
dexamethasone  (ISO)
Diallyl sulfide  (EXP)
diarsenic trioxide  (EXP,ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
elemental selenium  (EXP)
endosulfan  (ISO)
enzyme inhibitor  (EXP)
ethanol  (EXP,ISO)
ferric oxide  (ISO)
flunarizine  (ISO)
flusilazole  (ISO)
folic acid  (ISO)
folpet  (ISO)
formaldehyde  (EXP)
fumonisin B1  (ISO)
furan  (ISO)
genistein  (ISO)
gentamycin  (ISO)
ginsenoside Rb1  (EXP)
glucose  (ISO)
ionomycin  (ISO)
isoniazide  (ISO)
ivermectin  (EXP)
lead diacetate  (EXP)
lead nitrate  (ISO)
lipopolysaccharide  (ISO)
Maduramicin  (ISO)
manganese atom  (ISO)
manganese(0)  (ISO)
manganese(II) chloride  (ISO)
methamphetamine  (ISO)
methyl methanesulfonate  (EXP)
Methylazoxymethanol acetate  (ISO)
Mibefradil  (ISO)
microcystin-LR  (ISO)
mirtazapine  (ISO)
N-acetyl-L-cysteine  (EXP,ISO)
N-methyl-4-phenylpyridinium  (ISO)
NADP zwitterion  (ISO)
NADP(+)  (ISO)
oligomycin A  (EXP)
paraquat  (EXP,ISO)
phenobarbital  (ISO)
phenylpropanolamine  (EXP)
phosphoramide mustard  (ISO)
picoxystrobin  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
pterostilbene  (EXP)
pyrroloquinoline quinone  (EXP)
resveratrol  (ISO)
rotenone  (EXP)
SB 431542  (EXP)
selenium atom  (EXP)
silicon dioxide  (EXP,ISO)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
streptozocin  (ISO)
sulindac sulfide  (EXP)
sunitinib  (EXP)
swainsonine  (ISO)
taurine  (ISO)
tebufenpyrad  (EXP)
temozolomide  (EXP)
thapsigargin  (ISO)
trichloroethene  (ISO)
trifluoperazine  (EXP)
valproic acid  (EXP)
vitamin E  (EXP)
Xanthatin  (EXP)
Yessotoxin  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. The natural cytotoxicity receptor 1 contribution to early clearance of Streptococcus pneumoniae and to natural killer-macrophage cross talk. Elhaik-Goldman S, etal., PLoS One. 2011;6(8):e23472. doi: 10.1371/journal.pone.0023472. Epub 2011 Aug 22.
2. Combined apoptosis and autophagy, the process that eliminates the oocytes of atretic follicles in immature rats. Escobar ML, etal., Apoptosis. 2008 Oct;13(10):1253-66.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. Overview of macroautophagy regulation in mammalian cells. Mehrpour M, etal., Cell Res. 2010 Jul;20(7):748-62. Epub 2010 Jun 15.
5. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1959930   PMID:2243102   PMID:2332441   PMID:2584229   PMID:2912382   PMID:3131762   PMID:3174652   PMID:3198605   PMID:7569928   PMID:8323299   PMID:8517882   PMID:8647888  
PMID:9482728   PMID:9685355   PMID:10222041   PMID:11584299   PMID:12144129   PMID:12230470   PMID:12477932   PMID:12754519   PMID:12885763   PMID:14702039   PMID:15052268   PMID:15052658  
PMID:15292400   PMID:15613468   PMID:15744340   PMID:15792797   PMID:15916720   PMID:16004603   PMID:16176980   PMID:16335952   PMID:16542649   PMID:16570122   PMID:16710742   PMID:16718270  
PMID:16778144   PMID:16887987   PMID:17048695   PMID:17381240   PMID:17506821   PMID:18286479   PMID:18329387   PMID:18388320   PMID:18417583   PMID:18767904   PMID:18787122   PMID:18835598  
PMID:18958159   PMID:19056867   PMID:19079288   PMID:19286658   PMID:19322201   PMID:19343823   PMID:19524015   PMID:19802344   PMID:19946888   PMID:20012524   PMID:20459747   PMID:20622010  
PMID:20926008   PMID:20956541   PMID:20967466   PMID:21152024   PMID:21194361   PMID:21266579   PMID:21674799   PMID:21789505   PMID:21873635   PMID:21909394   PMID:22268729   PMID:22640649  
PMID:22641697   PMID:22733818   PMID:22768177   PMID:22792322   PMID:22863883   PMID:22939629   PMID:23098255   PMID:23172893   PMID:23246001   PMID:23376485   PMID:23394946   PMID:23533145  
PMID:23603048   PMID:23632890   PMID:23696512   PMID:23704327   PMID:23729440   PMID:23826410   PMID:23847195   PMID:24086611   PMID:24088571   PMID:24134738   PMID:24147000   PMID:24227857  
PMID:24307588   PMID:24334114   PMID:24489825   PMID:24619419   PMID:24662486   PMID:24695761   PMID:24872578   PMID:24899193   PMID:24916509   PMID:24932692   PMID:24942586   PMID:24970085  
PMID:24998849   PMID:24999758   PMID:25063738   PMID:25251993   PMID:25275127   PMID:25320293   PMID:25324306   PMID:25360760   PMID:25376024   PMID:25396265   PMID:25760631   PMID:25915798  
PMID:25972533   PMID:26186441   PMID:26344197   PMID:26504171   PMID:26618866   PMID:26760575   PMID:26849049   PMID:27212625   PMID:27447745   PMID:27560716   PMID:27609518   PMID:27663661  
PMID:27664420   PMID:27788920   PMID:28055007   PMID:28199306   PMID:28199315   PMID:28514442   PMID:28685749   PMID:28687162   PMID:28743755   PMID:28986450   PMID:29048433   PMID:29142217  
PMID:29180619   PMID:29295909   PMID:29374180   PMID:29440432   PMID:29507755   PMID:29568061   PMID:29749495   PMID:29760280   PMID:29893854   PMID:29920782   PMID:29941173   PMID:29961565  
PMID:30082222   PMID:30097533   PMID:30185776   PMID:30207627   PMID:30282967   PMID:30404831   PMID:30442662   PMID:30737378   PMID:31184779   PMID:31288830   PMID:31544977   PMID:31588230  
PMID:31594818   PMID:31804757   PMID:31995728   PMID:31999726   PMID:32296183   PMID:32409323   PMID:32423001   PMID:32687490   PMID:32807901   PMID:33044169   PMID:33372681   PMID:33452816  
PMID:33545068   PMID:33640682   PMID:33961781   PMID:34079125   PMID:34225486   PMID:34709727   PMID:34767673   PMID:34943907   PMID:35271311   PMID:35384245   PMID:35696571   PMID:35944360  
PMID:35969633   PMID:36042349   PMID:36168627   PMID:36215168   PMID:36225252   PMID:36244648   PMID:36259166   PMID:36300783   PMID:36380368   PMID:36517590   PMID:36597993   PMID:36688959  
PMID:36736316   PMID:37120454   PMID:37390818   PMID:37827155   PMID:38218945   PMID:38231876  


Genomics

Comparative Map Data
LAMP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3813113,297,239 - 113,323,672 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl13113,297,239 - 113,323,672 (+)EnsemblGRCh38hg38GRCh38
GRCh3713113,951,554 - 113,977,987 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3613112,999,470 - 113,025,742 (+)NCBINCBI36Build 36hg18NCBI36
Build 3413112,999,602 - 113,025,741NCBI
Celera1394,778,100 - 94,804,252 (+)NCBICelera
Cytogenetic Map13q34NCBI
HuRef1394,390,382 - 94,416,378 (+)NCBIHuRef
CHM1_113113,920,516 - 113,946,732 (+)NCBICHM1_1
T2T-CHM13v2.013112,550,907 - 112,577,228 (+)NCBIT2T-CHM13v2.0
Lamp1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39813,209,161 - 13,225,338 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl813,209,161 - 13,225,338 (+)EnsemblGRCm39 Ensembl
GRCm38813,159,161 - 13,175,338 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl813,159,161 - 13,175,338 (+)EnsemblGRCm38mm10GRCm38
MGSCv37813,159,135 - 13,175,338 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36813,159,256 - 13,175,315 (+)NCBIMGSCv36mm8
Celera813,327,454 - 13,343,657 (+)NCBICelera
Cytogenetic Map8A1.1NCBI
cM Map85.73NCBI
Lamp1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81683,058,131 - 83,082,843 (-)NCBIGRCr8
mRatBN7.21676,355,982 - 76,380,700 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1676,355,984 - 76,381,883 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1681,636,784 - 81,653,472 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01685,089,361 - 85,106,049 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01680,324,785 - 80,354,680 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01681,689,576 - 81,714,341 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1681,689,335 - 81,714,419 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01681,175,574 - 81,200,580 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41681,213,165 - 81,230,019 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11681,213,425 - 81,230,284 (-)NCBI
Celera1674,162,536 - 74,179,021 (-)NCBICelera
RH 3.4 Map16744.4RGD
Cytogenetic Map16q12.5NCBI
Lamp1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955404557,862 - 573,379 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955404557,090 - 573,532 (-)NCBIChiLan1.0ChiLan1.0
LAMP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v214114,800,586 - 114,826,384 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan113113,491,024 - 113,515,539 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01394,442,507 - 94,464,061 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.113113,507,400 - 113,530,179 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl13113,507,401 - 113,530,457 (+)Ensemblpanpan1.1panPan2
LAMP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12260,678,116 - 60,695,619 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2260,678,111 - 60,694,924 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2260,390,142 - 60,407,645 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02261,363,372 - 61,380,853 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2261,304,300 - 61,380,844 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12260,802,204 - 60,819,682 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02260,804,391 - 60,821,868 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02260,835,472 - 60,852,955 (+)NCBIUU_Cfam_GSD_1.0
Lamp1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945195,563,024 - 195,574,796 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936472378,173 - 389,381 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936472377,359 - 389,121 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LAMP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1178,600,713 - 78,617,615 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11178,600,818 - 78,617,587 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21186,117,963 - 86,134,737 (-)NCBISscrofa10.2Sscrofa10.2susScr3
LAMP1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1391,295,758 - 91,319,881 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl391,295,681 - 91,321,333 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604648,343,222 - 48,368,545 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Lamp1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624793661,342 - 675,675 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624793661,322 - 675,603 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in LAMP1
32 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3 copy number gain See cases [RCV001353184] Chr13:19053605..115108528 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050921]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050921]|See cases [RCV000050921] Chr13:107918132..114327173 [GRCh38]
Chr13:108570480..115092648 [GRCh37]
Chr13:13q33.3-34
pathogenic
GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)x1 copy number loss See cases [RCV000050922] Chr13:107918132..114327173 [GRCh38]
Chr13:108570480..115092648 [GRCh37]
Chr13:107368481..114110750 [NCBI36]
Chr13:13q33.3-34
pathogenic
GRCh38/hg38 13q33.3-34(chr13:108743171-114327173)x1 copy number loss See cases [RCV000050540] Chr13:108743171..114327173 [GRCh38]
Chr13:109395519..115085141 [GRCh37]
Chr13:108193520..114110750 [NCBI36]
Chr13:13q33.3-34
pathogenic
GRCh38/hg38 13q33.2-34(chr13:104461586-114327173)x1 copy number loss See cases [RCV000051448] Chr13:104461586..114327173 [GRCh38]
Chr13:105113936..115085141 [GRCh37]
Chr13:103911937..114110750 [NCBI36]
Chr13:13q33.2-34
pathogenic
GRCh38/hg38 13q33.2-34(chr13:104698508-114327173)x1 copy number loss See cases [RCV000051449] Chr13:104698508..114327173 [GRCh38]
Chr13:105350859..115085141 [GRCh37]
Chr13:104148860..114110750 [NCBI36]
Chr13:13q33.2-34
pathogenic
GRCh38/hg38 13q33.2-34(chr13:105571072-114327314)x1 copy number loss See cases [RCV000051450] Chr13:105571072..114327314 [GRCh38]
Chr13:106223421..115085141 [GRCh37]
Chr13:105021422..114110891 [NCBI36]
Chr13:13q33.2-34
pathogenic
GRCh38/hg38 13q33.3-34(chr13:107168805-114327314)x1 copy number loss See cases [RCV000051452] Chr13:107168805..114327314 [GRCh38]
Chr13:107821153..115085141 [GRCh37]
Chr13:106619154..114110891 [NCBI36]
Chr13:13q33.3-34
pathogenic
GRCh38/hg38 13q34(chr13:111541166-113671678)x1 copy number loss See cases [RCV000051453] Chr13:111541166..113671678 [GRCh38]
Chr13:112193513..114325993 [GRCh37]
Chr13:110991514..113648401 [NCBI36]
Chr13:13q34
pathogenic
GRCh38/hg38 13q34(chr13:113084152-114327173)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051454]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051454]|See cases [RCV000051454] Chr13:113084152..114327173 [GRCh38]
Chr13:113738466..115085141 [GRCh37]
Chr13:112786467..114110750 [NCBI36]
Chr13:13q34
pathogenic
GRCh38/hg38 13q31.1-34(chr13:82581008-114327173)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051380]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051380]|See cases [RCV000051380] Chr13:82581008..114327173 [GRCh38]
Chr13:83155143..115085141 [GRCh37]
Chr13:82053144..114110750 [NCBI36]
Chr13:13q31.1-34
pathogenic
GRCh38/hg38 13q31.3-34(chr13:91366227-114327314)x1 copy number loss See cases [RCV000051418] Chr13:91366227..114327314 [GRCh38]
Chr13:92018481..115085141 [GRCh37]
Chr13:90816482..114110891 [NCBI36]
Chr13:13q31.3-34
pathogenic
GRCh38/hg38 13q32.3-34(chr13:101049614-114327314)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051421]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051421]|See cases [RCV000051421] Chr13:101049614..114327314 [GRCh38]
Chr13:101587036..115085141 [GRCh37]
Chr13:100385037..114110891 [NCBI36]
Chr13:13q32.3-34
pathogenic
GRCh38/hg38 13q33.1-34(chr13:101537045-114327173)x1 copy number loss See cases [RCV000051422] Chr13:101537045..114327173 [GRCh38]
Chr13:102189396..115085141 [GRCh37]
Chr13:100987397..114110750 [NCBI36]
Chr13:13q33.1-34
pathogenic
GRCh38/hg38 13q33.1-34(chr13:102114025-114327173)x1 copy number loss See cases [RCV000051423] Chr13:102114025..114327173 [GRCh38]
Chr13:102766375..115085141 [GRCh37]
Chr13:101564376..114110750 [NCBI36]
Chr13:13q33.1-34
pathogenic
GRCh38/hg38 13q33.2-34(chr13:106157165-114327173)x1 copy number loss See cases [RCV000051180] Chr13:106157165..114327173 [GRCh38]
Chr13:106809514..115085141 [GRCh37]
Chr13:105607515..114110750 [NCBI36]
Chr13:13q33.2-34
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000053731] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3 copy number gain See cases [RCV000053719] Chr13:18565048..114327173 [GRCh38]
Chr13:19139188..115085141 [GRCh37]
Chr13:18037188..114110750 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3 copy number gain See cases [RCV000053723] Chr13:18850545..114327173 [GRCh38]
Chr13:19296527..115085141 [GRCh37]
Chr13:18194527..114110750 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3 copy number gain See cases [RCV000053726] Chr13:18946182..114304628 [GRCh38]
Chr13:19520322..115070103 [GRCh37]
Chr13:18418322..114088205 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3 copy number gain See cases [RCV000053759] Chr13:33528097..114327173 [GRCh38]
Chr13:34102234..115085141 [GRCh37]
Chr13:33000234..114110750 [NCBI36]
Chr13:13q13.2-34
pathogenic
GRCh38/hg38 13q32.3-34(chr13:99472316-114293545)x3 copy number gain See cases [RCV000053792] Chr13:99472316..114293545 [GRCh38]
Chr13:100124570..115059020 [GRCh37]
Chr13:98922571..114077122 [NCBI36]
Chr13:13q32.3-34
pathogenic
GRCh38/hg38 13q14.11-34(chr13:43219125-114327314)x3 copy number gain See cases [RCV000053762] Chr13:43219125..114327314 [GRCh38]
Chr13:43793261..115085141 [GRCh37]
Chr13:42691261..114110891 [NCBI36]
Chr13:13q14.11-34
pathogenic
GRCh38/hg38 13q32.3-34(chr13:100039860-114327173)x3 copy number gain See cases [RCV000053795] Chr13:100039860..114327173 [GRCh38]
Chr13:100692114..115085141 [GRCh37]
Chr13:99490115..114110750 [NCBI36]
Chr13:13q32.3-34
pathogenic
GRCh38/hg38 13q33.3-34(chr13:109162657-114327314)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053797]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053797]|See cases [RCV000053797] Chr13:109162657..114327314 [GRCh38]
Chr13:109815005..115085141 [GRCh37]
Chr13:108613006..114110891 [NCBI36]
Chr13:13q33.3-34
pathogenic
GRCh38/hg38 13q34(chr13:111439396-114327173)x3 copy number gain See cases [RCV000053798] Chr13:111439396..114327173 [GRCh38]
Chr13:112091743..115085141 [GRCh37]
Chr13:110889744..114110750 [NCBI36]
Chr13:13q34
pathogenic
GRCh38/hg38 13q34(chr13:112292922-113636272)x3 copy number gain See cases [RCV000053800] Chr13:112292922..113636272 [GRCh38]
Chr13:112947236..114290587 [GRCh37]
Chr13:111995237..113338588 [NCBI36]
Chr13:13q34
pathogenic
GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3 copy number gain See cases [RCV000053764] Chr13:44164751..114327173 [GRCh38]
Chr13:44738887..115085141 [GRCh37]
Chr13:43636887..114110750 [NCBI36]
Chr13:13q14.11-34
pathogenic
GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3 copy number gain See cases [RCV000053767] Chr13:44733046..114327173 [GRCh38]
Chr13:45307182..115085141 [GRCh37]
Chr13:44205182..114110750 [NCBI36]
Chr13:13q14.12-34
pathogenic
GRCh38/hg38 13q22.1-34(chr13:74345951-114327314)x3 copy number gain See cases [RCV000053770] Chr13:74345951..114327314 [GRCh38]
Chr13:74920088..115085141 [GRCh37]
Chr13:73818089..114110891 [NCBI36]
Chr13:13q22.1-34
pathogenic
GRCh38/hg38 13q31.1-34(chr13:80628584-114327173)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053772]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053772]|See cases [RCV000053772] Chr13:80628584..114327173 [GRCh38]
Chr13:81202719..115085141 [GRCh37]
Chr13:80100720..114110750 [NCBI36]
Chr13:13q31.1-34
pathogenic
GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)x3 copy number gain See cases [RCV000050921] Chr13:107918132..114327173 [GRCh38]
Chr13:108570480..115085141 [GRCh37]
Chr13:107368481..114110750 [NCBI36]
Chr13:13q33.3-34
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3 copy number gain See cases [RCV000134104] Chr13:19833130..114298614 [GRCh38]
Chr13:20407270..115064089 [GRCh37]
Chr13:19305270..114082191 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1 copy number loss See cases [RCV000135610] Chr13:18445862..114327173 [GRCh38]
Chr13:19020001..115085141 [GRCh37]
Chr13:10098739..114110750 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q31.2-34(chr13:88937651-114327173)x3 copy number gain See cases [RCV000137102] Chr13:88937651..114327173 [GRCh38]
Chr13:89589905..115085141 [GRCh37]
Chr13:88387906..114110750 [NCBI36]
Chr13:13q31.2-34
pathogenic
GRCh38/hg38 13q33.1-34(chr13:101868708-114293545)x3 copy number gain See cases [RCV000136805] Chr13:101868708..114293545 [GRCh38]
Chr13:102521058..115059020 [GRCh37]
Chr13:101319059..114077122 [NCBI36]
Chr13:13q33.1-34
pathogenic
GRCh38/hg38 13q33.3-34(chr13:107075477-114340331)x1 copy number loss See cases [RCV000137684] Chr13:107075477..114340331 [GRCh38]
Chr13:107727825..115085141 [GRCh37]
Chr13:106525826..114123908 [NCBI36]
Chr13:13q33.3-34
pathogenic
GRCh38/hg38 13q34(chr13:111118651-114340331)x3 copy number gain See cases [RCV000137378] Chr13:111118651..114340331 [GRCh38]
Chr13:111770998..115085141 [GRCh37]
Chr13:110568999..114123908 [NCBI36]
Chr13:13q34
likely pathogenic
GRCh38/hg38 13q33.1-34(chr13:102883322-114340331)x1 copy number loss See cases [RCV000137823] Chr13:102883322..114340331 [GRCh38]
Chr13:103535672..115085141 [GRCh37]
Chr13:102333673..114123908 [NCBI36]
Chr13:13q33.1-34
pathogenic
GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1 copy number loss See cases [RCV000137893] Chr13:40942298..114340331 [GRCh38]
Chr13:41516434..115085141 [GRCh37]
Chr13:40414434..114123908 [NCBI36]
Chr13:13q14.11-34
pathogenic
GRCh38/hg38 13q34(chr13:111355741-114340331)x1 copy number loss See cases [RCV000137957] Chr13:111355741..114340331 [GRCh38]
Chr13:112008088..115085141 [GRCh37]
Chr13:110806089..114123908 [NCBI36]
Chr13:13q34
pathogenic
GRCh38/hg38 13q31.1-34(chr13:78999318-114327106)x3 copy number gain See cases [RCV000138742] Chr13:78999318..114327106 [GRCh38]
Chr13:79573453..115085141 [GRCh37]
Chr13:78471454..114110683 [NCBI36]
Chr13:13q31.1-34
pathogenic
GRCh38/hg38 13q31.1-34(chr13:86788927-114340331)x1 copy number loss See cases [RCV000138340] Chr13:86788927..114340331 [GRCh38]
Chr13:87441182..115085141 [GRCh37]
Chr13:86239183..114123908 [NCBI36]
Chr13:13q31.1-34
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3 copy number gain See cases [RCV000139078] Chr13:19833130..114327106 [GRCh38]
Chr13:20407270..115085141 [GRCh37]
Chr13:19305270..114110683 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q32.1-34(chr13:96745059-114327106)x3 copy number gain See cases [RCV000139160] Chr13:96745059..114327106 [GRCh38]
Chr13:97397313..115085141 [GRCh37]
Chr13:96195314..114110683 [NCBI36]
Chr13:13q32.1-34
pathogenic
GRCh38/hg38 13q33.2-34(chr13:105861075-114342258)x1 copy number loss See cases [RCV000140449] Chr13:105861075..114342258 [GRCh38]
Chr13:106513424..115107733 [GRCh37]
Chr13:105311425..114125835 [NCBI36]
Chr13:13q33.2-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3 copy number gain See cases [RCV000140004] Chr13:18456040..114340285 [GRCh38]
Chr13:19030180..115105760 [GRCh37]
Chr13:17928180..114123862 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q34(chr13:113321284-113352000)x1 copy number loss See cases [RCV000139835] Chr13:113321284..113352000 [GRCh38]
Chr13:113975599..114006315 [GRCh37]
Chr13:113023600..113054316 [NCBI36]
Chr13:13q34
uncertain significance
GRCh38/hg38 13q33.1-34(chr13:101762788-114340285)x3 copy number gain See cases [RCV000141331] Chr13:101762788..114340285 [GRCh38]
Chr13:102415138..115105760 [GRCh37]
Chr13:101213139..114123862 [NCBI36]
Chr13:13q33.1-34
pathogenic
GRCh38/hg38 13q34(chr13:111200986-114340331)x1 copy number loss See cases [RCV000141232] Chr13:111200986..114340331 [GRCh38]
Chr13:111853333..115085141 [GRCh37]
Chr13:110651334..114123908 [NCBI36]
Chr13:13q34
pathogenic
GRCh38/hg38 13q31.1-34(chr13:78964223-114340331)x3 copy number gain See cases [RCV000141248] Chr13:78964223..114340331 [GRCh38]
Chr13:79538358..115085141 [GRCh37]
Chr13:78436359..114123908 [NCBI36]
Chr13:13q31.1-34
pathogenic
GRCh38/hg38 13q31.1-34(chr13:83288131-114342258)x3 copy number gain See cases [RCV000141804] Chr13:83288131..114342258 [GRCh38]
Chr13:83862266..115107733 [GRCh37]
Chr13:82760267..114125835 [NCBI36]
Chr13:13q31.1-34
pathogenic
GRCh38/hg38 13q34(chr13:110857896-114342258)x1 copy number loss See cases [RCV000143102] Chr13:110857896..114342258 [GRCh38]
Chr13:111510243..115107733 [GRCh37]
Chr13:110308244..114125835 [NCBI36]
Chr13:13q34
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3 copy number gain See cases [RCV000142924] Chr13:19671934..114340331 [GRCh38]
Chr13:20246074..115085141 [GRCh37]
Chr13:19144074..114123908 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q33.2-34(chr13:104968135-114340331)x1 copy number loss See cases [RCV000143330] Chr13:104968135..114340331 [GRCh38]
Chr13:105620486..115085141 [GRCh37]
Chr13:104418487..114123908 [NCBI36]
Chr13:13q33.2-34
pathogenic
GRCh38/hg38 13q33.2-34(chr13:105423935-114342258)x3 copy number gain See cases [RCV000143556] Chr13:105423935..114342258 [GRCh38]
Chr13:106076284..115107733 [GRCh37]
Chr13:104874285..114125835 [NCBI36]
Chr13:13q33.2-34
uncertain significance
GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3 copy number gain See cases [RCV000143462] Chr13:18862146..114342258 [GRCh38]
Chr13:19436286..115107733 [GRCh37]
Chr13:18334286..114125835 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)x1 copy number loss See cases [RCV000148262] Chr13:107918132..114327173 [GRCh38]
Chr13:108570480..115085141 [GRCh37]
Chr13:107368481..114110750 [NCBI36]
Chr13:13q33.3-34
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000148126] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh37/hg19 13q31.2-34(chr13:89796110-115083342)x1 copy number loss See cases [RCV000240161] Chr13:89796110..115083342 [GRCh37]
Chr13:13q31.2-34
pathogenic
GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3 copy number gain See cases [RCV000240150] Chr13:19571503..115092569 [GRCh37]
Chr13:13q12.11-34
pathogenic
GRCh37/hg19 13q21.2-34(chr13:61424168-115107733)x3 copy number gain See cases [RCV000449118] Chr13:61424168..115107733 [GRCh37]
Chr13:13q21.2-34
pathogenic
GRCh37/hg19 13q12.11-34(chr13:19571503-115092510) copy number gain See cases [RCV000449142] Chr13:19571503..115092510 [GRCh37]
Chr13:13q12.11-34
pathogenic
GRCh37/hg19 13q31.3-34(chr13:94269729-115107733)x3 copy number gain See cases [RCV000447545] Chr13:94269729..115107733 [GRCh37]
Chr13:13q31.3-34
pathogenic
GRCh37/hg19 13q34(chr13:113625366-114153873)x1 copy number loss See cases [RCV000446958] Chr13:113625366..114153873 [GRCh37]
Chr13:13q34
likely pathogenic
GRCh37/hg19 13q31.1-34(chr13:82221361-115092569)x3 copy number gain See cases [RCV000447429] Chr13:82221361..115092569 [GRCh37]
Chr13:13q31.1-34
pathogenic
GRCh37/hg19 13q34(chr13:111282121-115107733)x1 copy number loss See cases [RCV000447085] Chr13:111282121..115107733 [GRCh37]
Chr13:13q34
pathogenic
GRCh37/hg19 13q33.2-34(chr13:106450862-115107733)x1 copy number loss See cases [RCV000447192] Chr13:106450862..115107733 [GRCh37]
Chr13:13q33.2-34
pathogenic
GRCh37/hg19 13q32.3-34(chr13:101357397-115107733)x3 copy number gain See cases [RCV000447642] Chr13:101357397..115107733 [GRCh37]
Chr13:13q32.3-34
pathogenic
GRCh37/hg19 13q21.1-34(chr13:56431743-115107733) copy number gain See cases [RCV000510722] Chr13:56431743..115107733 [GRCh37]
Chr13:13q21.1-34
pathogenic
GRCh37/hg19 13q34(chr13:111550457-115107733)x1 copy number loss See cases [RCV000445865] Chr13:111550457..115107733 [GRCh37]
Chr13:13q34
pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain See cases [RCV000445886] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q34(chr13:112091743-115092510)x1 copy number loss See cases [RCV000448192] Chr13:112091743..115092510 [GRCh37]
Chr13:13q34
pathogenic
GRCh37/hg19 13q31.2-34(chr13:88073140-115107733)x1 copy number loss See cases [RCV000448405] Chr13:88073140..115107733 [GRCh37]
Chr13:13q31.2-34
pathogenic
GRCh37/hg19 13q34(chr13:113707657-115107733)x1 copy number loss See cases [RCV000448435] Chr13:113707657..115107733 [GRCh37]
Chr13:13q34
uncertain significance
GRCh37/hg19 13q33.2-34(chr13:106056749-115107733)x1 copy number loss See cases [RCV000448783] Chr13:106056749..115107733 [GRCh37]
Chr13:13q33.2-34
pathogenic
GRCh37/hg19 13q33.1-34(chr13:103170306-115107733)x1 copy number loss See cases [RCV000512127] Chr13:103170306..115107733 [GRCh37]
Chr13:13q33.1-34
pathogenic
GRCh37/hg19 13q33.3-34(chr13:109151651-115107733)x1 copy number loss See cases [RCV000512069] Chr13:109151651..115107733 [GRCh37]
Chr13:13q33.3-34
pathogenic
GRCh37/hg19 13q33.1-34(chr13:103880953-115107733)x1 copy number loss See cases [RCV000510433] Chr13:103880953..115107733 [GRCh37]
Chr13:13q33.1-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733) copy number gain See cases [RCV000510405] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q31.3-34(chr13:94474530-115107733)x1 copy number loss See cases [RCV000510535] Chr13:94474530..115107733 [GRCh37]
Chr13:13q31.3-34
pathogenic
GRCh37/hg19 13q21.33-34(chr13:71871468-115107733)x4 copy number gain See cases [RCV000510281] Chr13:71871468..115107733 [GRCh37]
Chr13:13q21.33-34
pathogenic
GRCh37/hg19 13q31.1-34(chr13:80058840-115107733)x3 copy number gain See cases [RCV000510566] Chr13:80058840..115107733 [GRCh37]
Chr13:13q31.1-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3 copy number gain See cases [RCV000511880] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
NM_005561.4(LAMP1):c.640C>T (p.Pro214Ser) single nucleotide variant Inborn genetic diseases [RCV003246304] Chr13:113319546 [GRCh38]
Chr13:113973861 [GRCh37]
Chr13:13q34
uncertain significance
GRCh37/hg19 13q31.1-34(chr13:83435292-115107733)x3 copy number gain See cases [RCV000512605] Chr13:83435292..115107733 [GRCh37]
Chr13:13q31.1-34
pathogenic
GRCh37/hg19 13q32.1-34(chr13:96586481-115107733)x1 copy number loss See cases [RCV000512257] Chr13:96586481..115107733 [GRCh37]
Chr13:13q32.1-34
pathogenic
GRCh37/hg19 13q31.1-34(chr13:85176519-115107733)x3 copy number gain See cases [RCV000512242] Chr13:85176519..115107733 [GRCh37]
Chr13:13q31.1-34
pathogenic
GRCh37/hg19 13q22.3-34(chr13:78590089-115107733)x3 copy number gain not provided [RCV000683571] Chr13:78590089..115107733 [GRCh37]
Chr13:13q22.3-34
pathogenic
GRCh37/hg19 13q34(chr13:112530842-115107733)x1 copy number loss not provided [RCV000683558] Chr13:112530842..115107733 [GRCh37]
Chr13:13q34
pathogenic
GRCh37/hg19 13q33.3-34(chr13:109771548-115107733)x1 copy number loss not provided [RCV000683563] Chr13:109771548..115107733 [GRCh37]
Chr13:13q33.3-34
pathogenic
GRCh37/hg19 13q33.3-34(chr13:108567578-115107733)x3 copy number gain not provided [RCV000683565] Chr13:108567578..115107733 [GRCh37]
Chr13:13q33.3-34
pathogenic
GRCh37/hg19 13q33.3-34(chr13:108083664-115107733)x1 copy number loss not provided [RCV000683566] Chr13:108083664..115107733 [GRCh37]
Chr13:13q33.3-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19058717-115103529)x3 copy number gain not provided [RCV000738115] Chr13:19058717..115103529 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q32.3-34(chr13:101075864-115105020)x1 copy number loss not provided [RCV000738357] Chr13:101075864..115105020 [GRCh37]
Chr13:13q32.3-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19031237-115107157)x3 copy number gain not provided [RCV000750643] Chr13:19031237..115107157 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q33.1-34(chr13:104539503-115103529)x1 copy number loss not provided [RCV000750890] Chr13:104539503..115103529 [GRCh37]
Chr13:13q33.1-34
pathogenic
GRCh37/hg19 13q34(chr13:111152478-114527838)x1 copy number loss not provided [RCV000750904] Chr13:111152478..114527838 [GRCh37]
Chr13:13q34
pathogenic
GRCh37/hg19 13q34(chr13:111217422-115103529)x1 copy number loss not provided [RCV000750906] Chr13:111217422..115103529 [GRCh37]
Chr13:13q34
pathogenic
NM_005561.4(LAMP1):c.1017C>T (p.Asn339=) single nucleotide variant not provided [RCV000905835] Chr13:113321630 [GRCh38]
Chr13:113975945 [GRCh37]
Chr13:13q34
benign
GRCh37/hg19 13q33.1-34(chr13:101881803-115091330) copy number gain not provided [RCV000767821] Chr13:101881803..115091330 [GRCh37]
Chr13:13q33.1-34
pathogenic
NM_005561.4(LAMP1):c.224T>C (p.Leu75Pro) single nucleotide variant not provided [RCV000963121] Chr13:113309683 [GRCh38]
Chr13:113963998 [GRCh37]
Chr13:13q34
benign
NM_005561.4(LAMP1):c.379C>G (p.Leu127Val) single nucleotide variant not provided [RCV000974324] Chr13:113309838 [GRCh38]
Chr13:113964153 [GRCh37]
Chr13:13q34
benign
NM_005561.4(LAMP1):c.107G>A (p.Gly36Asp) single nucleotide variant not provided [RCV000964336] Chr13:113306530 [GRCh38]
Chr13:113960845 [GRCh37]
Chr13:13q34
benign
Single allele deletion not provided [RCV000845021] Chr13:107452288..115092569 [GRCh37]
Chr13:13q33.3-34
not provided
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV000849129] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q21.2-34(chr13:61775567-115107733)x3 copy number gain not provided [RCV000848025] Chr13:61775567..115107733 [GRCh37]
Chr13:13q21.2-34
pathogenic
GRCh37/hg19 13q33.3-34(chr13:109203109-115107733)x3 copy number gain not provided [RCV000848672] Chr13:109203109..115107733 [GRCh37]
Chr13:13q33.3-34
uncertain significance
GRCh37/hg19 13q31.3-34(chr13:94849303-115107733)x3 copy number gain not provided [RCV000847710] Chr13:94849303..115107733 [GRCh37]
Chr13:13q31.3-34
uncertain significance
GRCh37/hg19 13q34(chr13:111568865-115107733)x1 copy number loss not provided [RCV000846886] Chr13:111568865..115107733 [GRCh37]
Chr13:13q34
pathogenic
NM_005561.4(LAMP1):c.94A>G (p.Met32Val) single nucleotide variant Inborn genetic diseases [RCV003241082] Chr13:113306517 [GRCh38]
Chr13:113960832 [GRCh37]
Chr13:13q34
likely benign
NM_005561.4(LAMP1):c.1134C>T (p.Asp378=) single nucleotide variant not provided [RCV000883085] Chr13:113322301 [GRCh38]
Chr13:113976616 [GRCh37]
Chr13:13q34
benign
NM_005561.4(LAMP1):c.1197C>G (p.Val399=) single nucleotide variant not provided [RCV000883086] Chr13:113322364 [GRCh38]
Chr13:113976679 [GRCh37]
Chr13:13q34
benign
NM_005561.4(LAMP1):c.562+4G>A single nucleotide variant not provided [RCV000888012] Chr13:113310871 [GRCh38]
Chr13:113965186 [GRCh37]
Chr13:13q34
benign
GRCh37/hg19 13q34(chr13:113895789-113965927)x1 copy number loss not provided [RCV002472735] Chr13:113895789..113965927 [GRCh37]
Chr13:13q34
uncertain significance
GRCh37/hg19 13q32.1-34(chr13:96895656-115107733)x1 copy number loss not provided [RCV001006591] Chr13:96895656..115107733 [GRCh37]
Chr13:13q32.1-34
pathogenic
GRCh37/hg19 13q14.3-34(chr13:53262013-115107733)x1 copy number loss not provided [RCV001006567] Chr13:53262013..115107733 [GRCh37]
Chr13:13q14.3-34
pathogenic
GRCh37/hg19 13q34(chr13:112069981-115107733)x3 copy number gain not provided [RCV001259172] Chr13:112069981..115107733 [GRCh37]
Chr13:13q34
likely pathogenic
GRCh37/hg19 13p13-q34(chr13:1-115169878) copy number gain Complete trisomy 13 syndrome [RCV002280659] Chr13:1..115169878 [GRCh37]
Chr13:13p13-q34
pathogenic
GRCh37/hg19 13q34(chr13:110428062-115107733) copy number loss Neurodevelopmental delay [RCV002280627] Chr13:110428062..115107733 [GRCh37]
Chr13:13q34
pathogenic
Single allele deletion not provided [RCV001260932] Chr13:102175801..115169858 [GRCh37]
Chr13:13q33.1-34
pathogenic
GRCh37/hg19 13q33.2-34(chr13:106256198-115107733)x1 copy number loss not provided [RCV001259170] Chr13:106256198..115107733 [GRCh37]
Chr13:13q33.2-34
pathogenic
GRCh37/hg19 13p13-q34(chr13:1-115169878)x3 copy number gain See cases [RCV001780076] Chr13:1..115169878 [GRCh37]
Chr13:13p13-q34
pathogenic
NC_000013.11:g.109179481_114327244del deletion Factor X deficiency [RCV001818108] Chr13:109179481..114327244 [GRCh38]
Chr13:13q33.3-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-114981726) copy number gain not specified [RCV002053035] Chr13:19436286..114981726 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q22.3-34(chr13:78514567-115107733) copy number gain not specified [RCV002053071] Chr13:78514567..115107733 [GRCh37]
Chr13:13q22.3-34
pathogenic
GRCh37/hg19 13q33.2-34(chr13:106450862-115107733) copy number loss not specified [RCV002053084] Chr13:106450862..115107733 [GRCh37]
Chr13:13q33.2-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV001834436] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q31.1-34(chr13:79370012-115107733) copy number loss not specified [RCV002053072] Chr13:79370012..115107733 [GRCh37]
Chr13:13q31.1-34
pathogenic
GRCh37/hg19 13q31.2-34(chr13:88073140-115107733) copy number loss not specified [RCV002053074] Chr13:88073140..115107733 [GRCh37]
Chr13:13q31.2-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733) copy number gain not specified [RCV002053036] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q21.2-34(chr13:61424168-115107733) copy number gain not specified [RCV002053063] Chr13:61424168..115107733 [GRCh37]
Chr13:13q21.2-34
pathogenic
GRCh37/hg19 13q33.1-34(chr13:104545892-115107733) copy number loss not specified [RCV002053082] Chr13:104545892..115107733 [GRCh37]
Chr13:13q33.1-34
pathogenic
GRCh37/hg19 13q33.2-34(chr13:106056749-115107733) copy number loss not specified [RCV002053083] Chr13:106056749..115107733 [GRCh37]
Chr13:13q33.2-34
pathogenic
GRCh37/hg19 13q31.1-34(chr13:85037147-115107733) copy number gain not specified [RCV002053073] Chr13:85037147..115107733 [GRCh37]
Chr13:13q31.1-34
pathogenic
GRCh37/hg19 13q32.3-34(chr13:100258328-115107733) copy number loss not specified [RCV002053077] Chr13:100258328..115107733 [GRCh37]
Chr13:13q32.3-34
pathogenic
GRCh37/hg19 13q34(chr13:113626234-115107733)x3 copy number gain not provided [RCV001827936] Chr13:113626234..115107733 [GRCh37]
Chr13:13q34
likely pathogenic
GRCh37/hg19 13q31.2-34(chr13:89490345-115062235)x3 copy number gain See cases [RCV002286354] Chr13:89490345..115062235 [GRCh37]
Chr13:13q31.2-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3 copy number gain not provided [RCV002291540] Chr13:19253848..115108937 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q22.1-34(chr13:75268539-115107733)x3 copy number gain not provided [RCV002472537] Chr13:75268539..115107733 [GRCh37]
Chr13:13q22.1-34
pathogenic
GRCh37/hg19 13q32.1-34(chr13:97142120-115107733)x1 copy number loss not provided [RCV002474828] Chr13:97142120..115107733 [GRCh37]
Chr13:13q32.1-34
pathogenic
NM_005561.4(LAMP1):c.491A>G (p.Asn164Ser) single nucleotide variant Inborn genetic diseases [RCV002753110] Chr13:113310796 [GRCh38]
Chr13:113965111 [GRCh37]
Chr13:13q34
uncertain significance
NM_005561.4(LAMP1):c.1227G>C (p.Arg409Ser) single nucleotide variant Inborn genetic diseases [RCV003012850] Chr13:113322394 [GRCh38]
Chr13:113976709 [GRCh37]
Chr13:13q34
uncertain significance
NM_005561.4(LAMP1):c.1221G>C (p.Arg407Ser) single nucleotide variant Inborn genetic diseases [RCV002754773] Chr13:113322388 [GRCh38]
Chr13:113976703 [GRCh37]
Chr13:13q34
uncertain significance
NM_005561.4(LAMP1):c.1004C>G (p.Ser335Cys) single nucleotide variant Inborn genetic diseases [RCV002945774] Chr13:113321617 [GRCh38]
Chr13:113975932 [GRCh37]
Chr13:13q34
uncertain significance
GRCh37/hg19 13q32.3-34(chr13:99421603-115107733)x3 copy number gain not provided [RCV002475671] Chr13:99421603..115107733 [GRCh37]
Chr13:13q32.3-34
pathogenic
NM_005561.4(LAMP1):c.967G>A (p.Gly323Ser) single nucleotide variant Inborn genetic diseases [RCV002849290] Chr13:113321580 [GRCh38]
Chr13:113975895 [GRCh37]
Chr13:13q34
likely benign
NM_005561.4(LAMP1):c.22C>G (p.Arg8Gly) single nucleotide variant Inborn genetic diseases [RCV002799963] Chr13:113297456 [GRCh38]
Chr13:113951771 [GRCh37]
Chr13:13q34
uncertain significance
NM_005561.4(LAMP1):c.74G>A (p.Cys25Tyr) single nucleotide variant Inborn genetic diseases [RCV002785159] Chr13:113306497 [GRCh38]
Chr13:113960812 [GRCh37]
Chr13:13q34
uncertain significance
NM_005561.4(LAMP1):c.1052C>T (p.Ser351Leu) single nucleotide variant Inborn genetic diseases [RCV002868368] Chr13:113321665 [GRCh38]
Chr13:113975980 [GRCh37]
Chr13:13q34
uncertain significance
NM_005561.4(LAMP1):c.446T>C (p.Ile149Thr) single nucleotide variant Inborn genetic diseases [RCV002892080] Chr13:113310751 [GRCh38]
Chr13:113965066 [GRCh37]
Chr13:13q34
uncertain significance
NM_005561.4(LAMP1):c.53T>C (p.Leu18Pro) single nucleotide variant Inborn genetic diseases [RCV002718662] Chr13:113297487 [GRCh38]
Chr13:113951802 [GRCh37]
Chr13:13q34
uncertain significance
NM_005561.4(LAMP1):c.893G>A (p.Arg298Gln) single nucleotide variant Inborn genetic diseases [RCV002965695] Chr13:113321420 [GRCh38]
Chr13:113975735 [GRCh37]
Chr13:13q34
uncertain significance
NM_005561.4(LAMP1):c.582C>A (p.Asp194Glu) single nucleotide variant Inborn genetic diseases [RCV002718504] Chr13:113319488 [GRCh38]
Chr13:113973803 [GRCh37]
Chr13:13q34
uncertain significance
NM_005561.4(LAMP1):c.389A>T (p.Asn130Ile) single nucleotide variant Inborn genetic diseases [RCV003299832] Chr13:113309848 [GRCh38]
Chr13:113964163 [GRCh37]
Chr13:13q34
uncertain significance
NM_005561.4(LAMP1):c.533A>G (p.Tyr178Cys) single nucleotide variant Inborn genetic diseases [RCV003184675] Chr13:113310838 [GRCh38]
Chr13:113965153 [GRCh37]
Chr13:13q34
uncertain significance
NM_005561.4(LAMP1):c.652T>C (p.Ser218Pro) single nucleotide variant Inborn genetic diseases [RCV003205341] Chr13:113319558 [GRCh38]
Chr13:113973873 [GRCh37]
Chr13:13q34
uncertain significance
NM_005561.4(LAMP1):c.880G>T (p.Ala294Ser) single nucleotide variant Inborn genetic diseases [RCV003209148] Chr13:113321407 [GRCh38]
Chr13:113975722 [GRCh37]
Chr13:13q34
uncertain significance
NM_005561.4(LAMP1):c.772A>G (p.Ile258Val) single nucleotide variant Inborn genetic diseases [RCV003281975] Chr13:113320366 [GRCh38]
Chr13:113974681 [GRCh37]
Chr13:13q34
uncertain significance
GRCh38/hg38 13q33.3-34(chr13:106425676-114326445)x1 copy number loss Chromosome 13q33-q34 deletion syndrome [RCV003327641] Chr13:106425676..114326445 [GRCh38]
Chr13:13q33.3-34
pathogenic
NM_005561.4(LAMP1):c.194T>C (p.Phe65Ser) single nucleotide variant Inborn genetic diseases [RCV003360261] Chr13:113309653 [GRCh38]
Chr13:113963968 [GRCh37]
Chr13:13q34
uncertain significance
GRCh37/hg19 13q21.2-34(chr13:61534068-115107733)x3 copy number gain not provided [RCV003484899] Chr13:61534068..115107733 [GRCh37]
Chr13:13q21.2-34
pathogenic
GRCh37/hg19 13q31.1-34(chr13:82131211-115107733)x1 copy number loss not provided [RCV003483192] Chr13:82131211..115107733 [GRCh37]
Chr13:13q31.1-34
pathogenic
GRCh37/hg19 13q22.1-34(chr13:73488238-115107733)x3 copy number gain not provided [RCV003484901] Chr13:73488238..115107733 [GRCh37]
Chr13:13q22.1-34
pathogenic
NM_005561.4(LAMP1):c.1233C>T (p.His411=) single nucleotide variant not provided [RCV003400526] Chr13:113322400 [GRCh38]
Chr13:113976715 [GRCh37]
Chr13:13q34
likely benign
GRCh37/hg19 13q33.2-34(chr13:106591678-115107733)x1 copy number loss not specified [RCV003987016] Chr13:106591678..115107733 [GRCh37]
Chr13:13q33.2-34
pathogenic
GRCh37/hg19 13q33.1-34(chr13:103149209-115107733)x1 copy number loss not specified [RCV003987029] Chr13:103149209..115107733 [GRCh37]
Chr13:13q33.1-34
pathogenic
GRCh37/hg19 13q31.1-34(chr13:84669397-115107733)x1 copy number loss not specified [RCV003987038] Chr13:84669397..115107733 [GRCh37]
Chr13:13q31.1-34
pathogenic
GRCh37/hg19 13q31.1-34(chr13:82876219-115107733)x3 copy number gain not specified [RCV003987023] Chr13:82876219..115107733 [GRCh37]
Chr13:13q31.1-34
pathogenic
GRCh37/hg19 13q33.1-34(chr13:102421732-115107733)x1 copy number loss not specified [RCV003987036] Chr13:102421732..115107733 [GRCh37]
Chr13:13q33.1-34
pathogenic
GRCh37/hg19 13q33.1-34(chr13:104389334-115107733)x1 copy number loss not specified [RCV003987019] Chr13:104389334..115107733 [GRCh37]
Chr13:13q33.1-34
pathogenic
GRCh37/hg19 13q33.2-34(chr13:105761074-115107733)x1 copy number loss not specified [RCV003987020] Chr13:105761074..115107733 [GRCh37]
Chr13:13q33.2-34
pathogenic
GRCh37/hg19 13q33.2-34(chr13:106430837-114763645)x3 copy number gain not specified [RCV003987031] Chr13:106430837..114763645 [GRCh37]
Chr13:13q33.2-34
uncertain significance
GRCh37/hg19 13q34(chr13:113158346-115091756)x1 copy number loss not provided [RCV003885459] Chr13:113158346..115091756 [GRCh37]
Chr13:13q34
pathogenic
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR378Ahsa-miR-378a-3pMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248

Predicted Target Of
Summary Value
Count of predictions:1035
Count of miRNA genes:564
Interacting mature miRNAs:607
Transcripts:ENST00000332556, ENST00000397181, ENST00000471046, ENST00000472564
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.

Markers in Region
RH44107  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,977,501 - 113,977,661UniSTSGRCh37
Build 3613113,025,502 - 113,025,662RGDNCBI36
Celera1394,804,012 - 94,804,172RGD
Cytogenetic Map13q34UniSTS
HuRef1394,416,138 - 94,416,298UniSTS
GeneMap99-GB4 RH Map13317.32UniSTS
NCBI RH Map131041.4UniSTS
WI-9160  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,977,398 - 113,977,502UniSTSGRCh37
Build 3613113,025,399 - 113,025,503RGDNCBI36
Celera1394,803,909 - 94,804,013RGD
Cytogenetic Map13q34UniSTS
HuRef1394,416,035 - 94,416,139UniSTS
D11S2921  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map10q24.33UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic MapXp11.4-p11.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map18pter-p11.3UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map4q34.1UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map7q21.12UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11p13-p12UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map5q12-q13UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map15q15-q21.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic MapXq25-q26.3UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map18p11.32UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map9p24.1-p23UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map12p11.22UniSTS
Cytogenetic Map17q23.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map9p11UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map15q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q22-qterUniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map19p13.2-cenUniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map9q33UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic MapXq26.2UniSTS
Cytogenetic Map8q13.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map5p13.1-p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map6q14.3-q16.1UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map6q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map6q11.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map10q24-q25UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map14q11.2-q21UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map5p14.3UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map9p13.1UniSTS
Cytogenetic Map9q34.13UniSTS


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 1 5
Medium 2433 2976 1724 622 1939 463 4356 2190 3709 416 1445 1609 171 1204 2788 4 1
Low 6 15 1 1 12 1 1 7 25 3 10 4 4 1 2 1
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_005561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011537494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054374518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH003113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC021288 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC025335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC093044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU849686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB462451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J03263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J04182 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000332556   ⟹   ENSP00000333298
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl13113,297,239 - 113,323,672 (+)Ensembl
RefSeq Acc Id: ENST00000471046
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl13113,321,767 - 113,322,594 (+)Ensembl
RefSeq Acc Id: ENST00000472564
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl13113,304,932 - 113,323,430 (+)Ensembl
RefSeq Acc Id: NM_005561   ⟹   NP_005552
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813113,297,239 - 113,323,672 (+)NCBI
GRCh3713113,951,436 - 113,977,746 (+)NCBI
Build 3613112,999,470 - 113,025,742 (+)NCBI Archive
HuRef1394,390,382 - 94,416,378 (+)ENTREZGENE
CHM1_113113,920,516 - 113,946,732 (+)NCBI
T2T-CHM13v2.013112,550,907 - 112,577,228 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011537494   ⟹   XP_011535796
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813113,305,634 - 113,323,672 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047430302   ⟹   XP_047286258
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813113,297,639 - 113,323,672 (+)NCBI
RefSeq Acc Id: XM_054374518   ⟹   XP_054230493
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.013112,559,273 - 112,577,228 (+)NCBI
RefSeq Acc Id: NP_005552   ⟸   NM_005561
- Peptide Label: precursor
- UniProtKB: Q9BRD2 (UniProtKB/Swiss-Prot),   Q96I40 (UniProtKB/Swiss-Prot),   Q8WU33 (UniProtKB/Swiss-Prot),   B4DWL3 (UniProtKB/Swiss-Prot),   Q9NP13 (UniProtKB/Swiss-Prot),   P11279 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011535796   ⟸   XM_011537494
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000333298   ⟸   ENST00000332556
RefSeq Acc Id: XP_047286258   ⟸   XM_047430302
- Peptide Label: isoform X2
- UniProtKB: B3KRY3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054230493   ⟸   XM_054374518
- Peptide Label: isoform X1
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P11279-F1-model_v2 AlphaFold P11279 1-417 view protein structure

Promoters
RGD ID:6790932
Promoter ID:HG_KWN:18651
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000045876
Position:
Human AssemblyChrPosition (strand)Source
Build 3613112,999,249 - 112,999,749 (+)MPROMDB
RGD ID:6790831
Promoter ID:HG_KWN:18652
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:ENST00000375432
Position:
Human AssemblyChrPosition (strand)Source
Build 3613113,007,436 - 113,007,936 (+)MPROMDB
RGD ID:6790935
Promoter ID:HG_KWN:18653
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000045877
Position:
Human AssemblyChrPosition (strand)Source
Build 3613113,024,026 - 113,024,537 (+)MPROMDB
RGD ID:7226895
Promoter ID:EPDNEW_H19191
Type:initiation region
Name:LAMP1_1
Description:lysosomal associated membrane protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813113,297,239 - 113,297,299EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6499 AgrOrtholog
COSMIC LAMP1 COSMIC
Ensembl Genes ENSG00000185896 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000332556 ENTREZGENE
  ENST00000332556.5 UniProtKB/Swiss-Prot
Gene3D-CATH 2.40.160.110 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000185896 GTEx
HGNC ID HGNC:6499 ENTREZGENE
Human Proteome Map LAMP1 Human Proteome Map
InterPro Lamp2-like_luminal UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Lamp2-like_TM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LAMP_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Lysosome-assoc_membr_glycop UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3916 UniProtKB/Swiss-Prot
NCBI Gene 3916 ENTREZGENE
OMIM 153330 OMIM
PANTHER LYSOSOME-ASSOCIATED MEMBRANE GLYCOPROTEIN 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11506 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Lamp UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Lamp2_2nd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30283 PharmGKB
PRINTS LYSASSOCTDMP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE LAMP_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LAMP_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LAMP_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B3KRY3 ENTREZGENE, UniProtKB/TrEMBL
  B4DWL3 ENTREZGENE
  LAMP1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q8WU33 ENTREZGENE
  Q96I40 ENTREZGENE
  Q9BRD2 ENTREZGENE
  Q9NP13 ENTREZGENE
UniProt Secondary B4DWL3 UniProtKB/Swiss-Prot
  Q8WU33 UniProtKB/Swiss-Prot
  Q96I40 UniProtKB/Swiss-Prot
  Q9BRD2 UniProtKB/Swiss-Prot
  Q9NP13 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-19 LAMP1  lysosomal associated membrane protein 1    lysosomal-associated membrane protein 1  Symbol and/or name change 5135510 APPROVED