Canonical Allele Identifier: CA253061

Gene: GBA1

Linked Data

• ClinVar Variation Id: 4294
• ClinVar RCV Id: RCV000004527 ; RCV000020149 ; RCV000411499
• dbSNP Id: rs77369218
• MyVariant Identifiers: chr1:g.155205517T>A (hg19) ; chr1:g.155235726T>A (hg38)
• PubMed: PMID:2502917 ; PMID:2508065 ; PMID:7475546 ; PMID:7627184 ; PMID:7655857 ; PMID:8544197 ; PMID:9040001 ; PMID:10636167 ; PMID:11148530 ; PMID:12838552 ; PMID:18586596 ; PMID:20301446

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155235726T>A , CM000663.2:g.155235726T>A	GRCh38
NC_000001.10:g.155205517T>A , CM000663.1:g.155205517T>A	GRCh37
NC_000001.9:g.153472141T>A	NCBI36
NG_009783.1:g.13972A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.1343A>T MANE Select	ENSP00000357357.3:p.Asp448Val
ENST00000327247.9:c.1343A>T	ENSP00000314508.5:p.Asp448Val
ENST00000368373.7:c.1343A>T	ENSP00000357357.3:p.Asp448Val
ENST00000427500.7:c.1196A>T	ENSP00000402577.2:p.Asp399Val
ENST00000428024.3:c.1082A>T	ENSP00000397986.2:p.Asp361Val
ENST00000464536.1:n.110A>T
ENST00000478472.1:n.334A>T
ENST00000484489.5:n.502A>T
NM_000157.3:c.1343A>T	NP_000148.2:p.Asp448Val
NM_001005741.2:c.1343A>T	NP_001005741.1:p.Asp448Val
NM_001005742.2:c.1343A>T	NP_001005742.1:p.Asp448Val
NM_001171811.1:c.1082A>T	NP_001165282.1:p.Asp361Val
NM_001171812.1:c.1196A>T	NP_001165283.1:p.Asp399Val
XM_006711270.1:c.1343A>T	XP_006711333.1:p.Asp448Val
XM_011509407.1:c.1343A>T	XP_011507709.1:p.Asp448Val
NM_000157.4:c.1343A>T MANE Select	NP_000148.2:p.Asp448Val
NM_001005741.3:c.1343A>T	NP_001005741.1:p.Asp448Val
NM_001005742.3:c.1343A>T	NP_001005742.1:p.Asp448Val
NM_001171811.2:c.1082A>T	NP_001165282.1:p.Asp361Val
NM_001171812.2:c.1196A>T	NP_001165283.1:p.Asp399Val