Canonical Allele Identifier: CA342726385

Gene: GBA1

Linked Data

• MyVariant Identifiers: chr1:g.155209514T>G (hg19) ; chr1:g.155239723T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155239723T>G , CM000663.2:g.155239723T>G	GRCh38
NC_000001.10:g.155209514T>G , CM000663.1:g.155209514T>G	GRCh37
NC_000001.9:g.153476138T>G	NCBI36
NG_009783.1:g.9975A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.347A>C MANE Select	ENSP00000357357.3:p.Lys116Thr
ENST00000327247.9:c.347A>C	ENSP00000314508.5:p.Lys116Thr
ENST00000368373.7:c.347A>C	ENSP00000357357.3:p.Lys116Thr
ENST00000427500.7:c.307+163A>C	ENSP00000402577.2:n.307+163A>C
ENST00000428024.3:c.86A>C	ENSP00000397986.2:p.Lys29Thr
ENST00000467918.5:n.537A>C
ENST00000473570.5:n.668A>C
ENST00000484489.5:n.339+250A>C
ENST00000493842.5:n.685A>C
ENST00000497670.5:n.77+163A>C
NM_000157.3:c.347A>C	NP_000148.2:p.Lys116Thr
NM_001005741.2:c.347A>C	NP_001005741.1:p.Lys116Thr
NM_001005742.2:c.347A>C	NP_001005742.1:p.Lys116Thr
NM_001171811.1:c.86A>C	NP_001165282.1:p.Lys29Thr
NM_001171812.1:c.307+163A>C	NP_001165283.1:n.307+163A>C
XM_006711270.1:c.347A>C	XP_006711333.1:p.Lys116Thr
XM_011509407.1:c.347A>C	XP_011507709.1:p.Lys116Thr
NM_000157.4:c.347A>C MANE Select	NP_000148.2:p.Lys116Thr
NM_001005741.3:c.347A>C	NP_001005741.1:p.Lys116Thr
NM_001005742.3:c.347A>C	NP_001005742.1:p.Lys116Thr
NM_001171811.2:c.86A>C	NP_001165282.1:p.Lys29Thr
NM_001171812.2:c.307+163A>C	NP_001165283.1:n.307+163A>C