Canonical Allele Identifier: CA221386

Gene: GBA1

Linked Data

• ClinVar Variation Id: 4326
• ClinVar RCV Id: RCV000004570 ; RCV000585360 ; RCV000780288 ; RCV001249081 ; RCV002490309
• dbSNP Id: rs121908309
• gnomAD v2: 1-155206068-G-A
• gnomAD v4: 1-155236277-G-A
• COSMIC: COSM1207959
• MyVariant Identifiers: chr1:g.155206068G>A (hg19) ; chr1:g.155236277G>A (hg38)
• PubMed: PMID:10352942

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155236277G>A , CM000663.2:g.155236277G>A	GRCh38
NC_000001.10:g.155206068G>A , CM000663.1:g.155206068G>A	GRCh37
NC_000001.9:g.153472692G>A	NCBI36
NG_009783.1:g.13421C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.1192C>T MANE Select	ENSP00000357357.3:p.Arg398Ter
ENST00000327247.9:c.1192C>T	ENSP00000314508.5:p.Arg398Ter
ENST00000368373.7:c.1192C>T	ENSP00000357357.3:p.Arg398Ter
ENST00000427500.7:c.1045C>T	ENSP00000402577.2:p.Arg349Ter
ENST00000428024.3:c.931C>T	ENSP00000397986.2:p.Arg311Ter
ENST00000478472.1:n.183C>T
ENST00000484489.5:n.351C>T
ENST00000491081.5:n.797C>T
NM_000157.3:c.1192C>T	NP_000148.2:p.Arg398Ter
NM_001005741.2:c.1192C>T	NP_001005741.1:p.Arg398Ter
NM_001005742.2:c.1192C>T	NP_001005742.1:p.Arg398Ter
NM_001171811.1:c.931C>T	NP_001165282.1:p.Arg311Ter
NM_001171812.1:c.1045C>T	NP_001165283.1:p.Arg349Ter
XM_006711270.1:c.1192C>T	XP_006711333.1:p.Arg398Ter
XM_011509407.1:c.1192C>T	XP_011507709.1:p.Arg398Ter
NM_000157.4:c.1192C>T MANE Select	NP_000148.2:p.Arg398Ter
NM_001005741.3:c.1192C>T	NP_001005741.1:p.Arg398Ter
NM_001005742.3:c.1192C>T	NP_001005742.1:p.Arg398Ter
NM_001171811.2:c.931C>T	NP_001165282.1:p.Arg311Ter
NM_001171812.2:c.1045C>T	NP_001165283.1:p.Arg349Ter