Canonical Allele Identifier: CA1141515

Gene: GBA1

Linked Data

• dbSNP Id: rs756858487
• ExAC: 1:155205005 C / T
• gnomAD v2: 1-155205005-C-T
• gnomAD v3: 1-155235214-C-T
• gnomAD v4: 1-155235214-C-T
• COSMIC: COSM6121484
• MyVariant Identifiers: chr1:g.155205005C>T (hg19) ; chr1:g.155235214C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155235214C>T , CM000663.2:g.155235214C>T	GRCh38
NC_000001.10:g.155205005C>T , CM000663.1:g.155205005C>T	GRCh37
NC_000001.9:g.153471629C>T	NCBI36
NG_009783.1:g.14484G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000368373.8:c.1486G>A MANE Select	ENSP00000357357.3:p.Val496Ile
ENST00000327247.9:c.1486G>A	ENSP00000314508.5:p.Val496Ile
ENST00000368373.7:c.1486G>A	ENSP00000357357.3:p.Val496Ile
ENST00000427500.7:c.1339G>A	ENSP00000402577.2:p.Val447Ile
ENST00000428024.3:c.1225G>A	ENSP00000397986.2:p.Val409Ile
ENST00000464536.1:n.191-393G>A
ENST00000478472.1:n.846G>A
ENST00000484489.5:n.645G>A
NM_000157.3:c.1486G>A	NP_000148.2:p.Val496Ile
NM_001005741.2:c.1486G>A	NP_001005741.1:p.Val496Ile
NM_001005742.2:c.1486G>A	NP_001005742.1:p.Val496Ile
NM_001171811.1:c.1225G>A	NP_001165282.1:p.Val409Ile
NM_001171812.1:c.1339G>A	NP_001165283.1:p.Val447Ile
XM_006711270.1:c.1486G>A	XP_006711333.1:p.Val496Ile
XM_011509407.1:c.1486G>A	XP_011507709.1:p.Val496Ile
NM_000157.4:c.1486G>A MANE Select	NP_000148.2:p.Val496Ile
NM_001005741.3:c.1486G>A	NP_001005741.1:p.Val496Ile
NM_001005742.3:c.1486G>A	NP_001005742.1:p.Val496Ile
NM_001171811.2:c.1225G>A	NP_001165282.1:p.Val409Ile
NM_001171812.2:c.1339G>A	NP_001165283.1:p.Val447Ile