Canonical Allele Identifier: CA342710917

Gene: GBA1

Linked Data

• gnomAD v4: 1-155235205-C-A
• MyVariant Identifiers: chr1:g.155204996C>A (hg19) ; chr1:g.155235205C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155235205C>A , CM000663.2:g.155235205C>A	GRCh38
NC_000001.10:g.155204996C>A , CM000663.1:g.155204996C>A	GRCh37
NC_000001.9:g.153471620C>A	NCBI36
NG_009783.1:g.14493G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000368373.8:c.1495G>T MANE Select	ENSP00000357357.3:p.Val499Leu
ENST00000327247.9:c.1495G>T	ENSP00000314508.5:p.Val499Leu
ENST00000368373.7:c.1495G>T	ENSP00000357357.3:p.Val499Leu
ENST00000427500.7:c.1348G>T	ENSP00000402577.2:p.Val450Leu
ENST00000428024.3:c.1234G>T	ENSP00000397986.2:p.Val412Leu
ENST00000464536.1:n.191-384G>T
ENST00000478472.1:n.855G>T
ENST00000484489.5:n.654G>T
NM_000157.3:c.1495G>T	NP_000148.2:p.Val499Leu
NM_001005741.2:c.1495G>T	NP_001005741.1:p.Val499Leu
NM_001005742.2:c.1495G>T	NP_001005742.1:p.Val499Leu
NM_001171811.1:c.1234G>T	NP_001165282.1:p.Val412Leu
NM_001171812.1:c.1348G>T	NP_001165283.1:p.Val450Leu
XM_006711270.1:c.1495G>T	XP_006711333.1:p.Val499Leu
XM_011509407.1:c.1495G>T	XP_011507709.1:p.Val499Leu
NM_000157.4:c.1495G>T MANE Select	NP_000148.2:p.Val499Leu
NM_001005741.3:c.1495G>T	NP_001005741.1:p.Val499Leu
NM_001005742.3:c.1495G>T	NP_001005742.1:p.Val499Leu
NM_001171811.2:c.1234G>T	NP_001165282.1:p.Val412Leu
NM_001171812.2:c.1348G>T	NP_001165283.1:p.Val450Leu