Canonical Allele Identifier: CA342727160

Gene: GBA1

Linked Data

• MyVariant Identifiers: chr1:g.155209724C>A (hg19) ; chr1:g.155239933C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155239933C>A , CM000663.2:g.155239933C>A	GRCh38
NC_000001.10:g.155209724C>A , CM000663.1:g.155209724C>A	GRCh37
NC_000001.9:g.153476348C>A	NCBI36
NG_009783.1:g.9765G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.260G>T MANE Select	ENSP00000357357.3:p.Arg87Leu
ENST00000327247.9:c.260G>T	ENSP00000314508.5:p.Arg87Leu
ENST00000368373.7:c.260G>T	ENSP00000357357.3:p.Arg87Leu
ENST00000427500.7:c.260G>T	ENSP00000402577.2:p.Arg87Leu
ENST00000428024.3:c.-2G>T	ENSP00000397986.2:n.-2G>T
ENST00000467918.5:n.450G>T
ENST00000473570.5:n.581G>T
ENST00000484489.5:n.339+40G>T
ENST00000493842.5:n.598G>T
ENST00000497670.5:n.30G>T
NM_000157.3:c.260G>T	NP_000148.2:p.Arg87Leu
NM_001005741.2:c.260G>T	NP_001005741.1:p.Arg87Leu
NM_001005742.2:c.260G>T	NP_001005742.1:p.Arg87Leu
NM_001171811.1:c.-2G>T	NP_001165282.1:n.-2G>T
NM_001171812.1:c.260G>T	NP_001165283.1:p.Arg87Leu
XM_006711270.1:c.260G>T	XP_006711333.1:p.Arg87Leu
XM_011509407.1:c.260G>T	XP_011507709.1:p.Arg87Leu
NM_000157.4:c.260G>T MANE Select	NP_000148.2:p.Arg87Leu
NM_001005741.3:c.260G>T	NP_001005741.1:p.Arg87Leu
NM_001005742.3:c.260G>T	NP_001005742.1:p.Arg87Leu
NM_001171811.2:c.-2G>T	NP_001165282.1:n.-2G>T
NM_001171812.2:c.260G>T	NP_001165283.1:p.Arg87Leu