Canonical Allele Identifier: CA342710974

Gene: GBA1

Linked Data

• gnomAD v4: 1-155235208-C-G
• MyVariant Identifiers: chr1:g.155204999C>G (hg19) ; chr1:g.155235208C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155235208C>G , CM000663.2:g.155235208C>G	GRCh38
NC_000001.10:g.155204999C>G , CM000663.1:g.155204999C>G	GRCh37
NC_000001.9:g.153471623C>G	NCBI36
NG_009783.1:g.14490G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000368373.8:c.1492G>C MANE Select	ENSP00000357357.3:p.Val498Leu
ENST00000327247.9:c.1492G>C	ENSP00000314508.5:p.Val498Leu
ENST00000368373.7:c.1492G>C	ENSP00000357357.3:p.Val498Leu
ENST00000427500.7:c.1345G>C	ENSP00000402577.2:p.Val449Leu
ENST00000428024.3:c.1231G>C	ENSP00000397986.2:p.Val411Leu
ENST00000464536.1:n.191-387G>C
ENST00000478472.1:n.852G>C
ENST00000484489.5:n.651G>C
NM_000157.3:c.1492G>C	NP_000148.2:p.Val498Leu
NM_001005741.2:c.1492G>C	NP_001005741.1:p.Val498Leu
NM_001005742.2:c.1492G>C	NP_001005742.1:p.Val498Leu
NM_001171811.1:c.1231G>C	NP_001165282.1:p.Val411Leu
NM_001171812.1:c.1345G>C	NP_001165283.1:p.Val449Leu
XM_006711270.1:c.1492G>C	XP_006711333.1:p.Val498Leu
XM_011509407.1:c.1492G>C	XP_011507709.1:p.Val498Leu
NM_000157.4:c.1492G>C MANE Select	NP_000148.2:p.Val498Leu
NM_001005741.3:c.1492G>C	NP_001005741.1:p.Val498Leu
NM_001005742.3:c.1492G>C	NP_001005742.1:p.Val498Leu
NM_001171811.2:c.1231G>C	NP_001165282.1:p.Val411Leu
NM_001171812.2:c.1345G>C	NP_001165283.1:p.Val449Leu