Canonical Allele Identifier: CA342726580

Gene: GBA1

Linked Data

• MyVariant Identifiers: chr1:g.155209550A>T (hg19) ; chr1:g.155239759A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155239759A>T , CM000663.2:g.155239759A>T	GRCh38
NC_000001.10:g.155209550A>T , CM000663.1:g.155209550A>T	GRCh37
NC_000001.9:g.153476174A>T	NCBI36
NG_009783.1:g.9939T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.311T>A MANE Select	ENSP00000357357.3:p.Leu104Gln
ENST00000327247.9:c.311T>A	ENSP00000314508.5:p.Leu104Gln
ENST00000368373.7:c.311T>A	ENSP00000357357.3:p.Leu104Gln
ENST00000427500.7:c.307+127T>A	ENSP00000402577.2:n.307+127T>A
ENST00000428024.3:c.50T>A	ENSP00000397986.2:p.Leu17Gln
ENST00000467918.5:n.501T>A
ENST00000473570.5:n.632T>A
ENST00000484489.5:n.339+214T>A
ENST00000493842.5:n.649T>A
ENST00000497670.5:n.77+127T>A
NM_000157.3:c.311T>A	NP_000148.2:p.Leu104Gln
NM_001005741.2:c.311T>A	NP_001005741.1:p.Leu104Gln
NM_001005742.2:c.311T>A	NP_001005742.1:p.Leu104Gln
NM_001171811.1:c.50T>A	NP_001165282.1:p.Leu17Gln
NM_001171812.1:c.307+127T>A	NP_001165283.1:n.307+127T>A
XM_006711270.1:c.311T>A	XP_006711333.1:p.Leu104Gln
XM_011509407.1:c.311T>A	XP_011507709.1:p.Leu104Gln
NM_000157.4:c.311T>A MANE Select	NP_000148.2:p.Leu104Gln
NM_001005741.3:c.311T>A	NP_001005741.1:p.Leu104Gln
NM_001005742.3:c.311T>A	NP_001005742.1:p.Leu104Gln
NM_001171811.2:c.50T>A	NP_001165282.1:p.Leu17Gln
NM_001171812.2:c.307+127T>A	NP_001165283.1:n.307+127T>A