Canonical Allele Identifier: CA342709664

Gene: GBA1

Linked Data

• MyVariant Identifiers: chr1:g.155204805T>A (hg19) ; chr1:g.155235014T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155235014T>A , CM000663.2:g.155235014T>A	GRCh38
NC_000001.10:g.155204805T>A , CM000663.1:g.155204805T>A	GRCh37
NC_000001.9:g.153471429T>A	NCBI36
NG_009783.1:g.14684A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.1592A>T MANE Select	ENSP00000357357.3:p.Tyr531Phe
ENST00000327247.9:c.1592A>T	ENSP00000314508.5:p.Tyr531Phe
ENST00000368373.7:c.1592A>T	ENSP00000357357.3:p.Tyr531Phe
ENST00000427500.7:c.1445A>T	ENSP00000402577.2:p.Tyr482Phe
ENST00000428024.3:c.1331A>T	ENSP00000397986.2:p.Tyr444Phe
ENST00000464536.1:n.191-193A>T
ENST00000478472.1:n.952A>T
NM_000157.3:c.1592A>T	NP_000148.2:p.Tyr531Phe
NM_001005741.2:c.1592A>T	NP_001005741.1:p.Tyr531Phe
NM_001005742.2:c.1592A>T	NP_001005742.1:p.Tyr531Phe
NM_001171811.1:c.1331A>T	NP_001165282.1:p.Tyr444Phe
NM_001171812.1:c.1445A>T	NP_001165283.1:p.Tyr482Phe
XM_006711270.1:c.1592A>T	XP_006711333.1:p.Tyr531Phe
XM_011509407.1:c.1592A>T	XP_011507709.1:p.Tyr531Phe
NM_000157.4:c.1592A>T MANE Select	NP_000148.2:p.Tyr531Phe
NM_001005741.3:c.1592A>T	NP_001005741.1:p.Tyr531Phe
NM_001005742.3:c.1592A>T	NP_001005742.1:p.Tyr531Phe
NM_001171811.2:c.1331A>T	NP_001165282.1:p.Tyr444Phe
NM_001171812.2:c.1445A>T	NP_001165283.1:p.Tyr482Phe