Canonical Allele Identifier: CA342712792

Gene: GBA1

Linked Data

• ClinVar Variation Id: 496800
• ClinVar RCV Id: RCV000592466
• dbSNP Id: rs1553216985
• MyVariant Identifiers: chr1:g.155205512A>T (hg19) ; chr1:g.155235721A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155235721A>T , CM000663.2:g.155235721A>T	GRCh38
NC_000001.10:g.155205512A>T , CM000663.1:g.155205512A>T	GRCh37
NC_000001.9:g.153472136A>T	NCBI36
NG_009783.1:g.13977T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.1348T>A MANE Select	ENSP00000357357.3:p.Phe450Ile
ENST00000327247.9:c.1348T>A	ENSP00000314508.5:p.Phe450Ile
ENST00000368373.7:c.1348T>A	ENSP00000357357.3:p.Phe450Ile
ENST00000427500.7:c.1201T>A	ENSP00000402577.2:p.Phe401Ile
ENST00000428024.3:c.1087T>A	ENSP00000397986.2:p.Phe363Ile
ENST00000464536.1:n.115T>A
ENST00000478472.1:n.339T>A
ENST00000484489.5:n.507T>A
NM_000157.3:c.1348T>A	NP_000148.2:p.Phe450Ile
NM_001005741.2:c.1348T>A	NP_001005741.1:p.Phe450Ile
NM_001005742.2:c.1348T>A	NP_001005742.1:p.Phe450Ile
NM_001171811.1:c.1087T>A	NP_001165282.1:p.Phe363Ile
NM_001171812.1:c.1201T>A	NP_001165283.1:p.Phe401Ile
XM_006711270.1:c.1348T>A	XP_006711333.1:p.Phe450Ile
XM_011509407.1:c.1348T>A	XP_011507709.1:p.Phe450Ile
NM_000157.4:c.1348T>A MANE Select	NP_000148.2:p.Phe450Ile
NM_001005741.3:c.1348T>A	NP_001005741.1:p.Phe450Ile
NM_001005742.3:c.1348T>A	NP_001005742.1:p.Phe450Ile
NM_001171811.2:c.1087T>A	NP_001165282.1:p.Phe363Ile
NM_001171812.2:c.1201T>A	NP_001165283.1:p.Phe401Ile