Canonical Allele Identifier: CA342721284

Gene: GBA1

Linked Data

• MyVariant Identifiers: chr1:g.155207941C>T (hg19) ; chr1:g.155238150C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155238150C>T , CM000663.2:g.155238150C>T	GRCh38
NC_000001.10:g.155207941C>T , CM000663.1:g.155207941C>T	GRCh37
NC_000001.9:g.153474565C>T	NCBI36
NG_009783.1:g.11548G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000368373.8:c.745G>A MANE Select	ENSP00000357357.3:p.Ala249Thr
ENST00000327247.9:c.745G>A	ENSP00000314508.5:p.Ala249Thr
ENST00000368373.7:c.745G>A	ENSP00000357357.3:p.Ala249Thr
ENST00000427500.7:c.598G>A	ENSP00000402577.2:p.Ala200Thr
ENST00000428024.3:c.484G>A	ENSP00000397986.2:p.Ala162Thr
ENST00000460156.1:n.532G>A
ENST00000484489.5:n.339+1823G>A
ENST00000491081.5:n.350G>A
ENST00000497670.5:n.368G>A
NM_000157.3:c.745G>A	NP_000148.2:p.Ala249Thr
NM_001005741.2:c.745G>A	NP_001005741.1:p.Ala249Thr
NM_001005742.2:c.745G>A	NP_001005742.1:p.Ala249Thr
NM_001171811.1:c.484G>A	NP_001165282.1:p.Ala162Thr
NM_001171812.1:c.598G>A	NP_001165283.1:p.Ala200Thr
XM_006711270.1:c.745G>A	XP_006711333.1:p.Ala249Thr
XM_011509407.1:c.745G>A	XP_011507709.1:p.Ala249Thr
NM_000157.4:c.745G>A MANE Select	NP_000148.2:p.Ala249Thr
NM_001005741.3:c.745G>A	NP_001005741.1:p.Ala249Thr
NM_001005742.3:c.745G>A	NP_001005742.1:p.Ala249Thr
NM_001171811.2:c.484G>A	NP_001165282.1:p.Ala162Thr
NM_001171812.2:c.598G>A	NP_001165283.1:p.Ala200Thr