Canonical Allele Identifier: CA463540874

Gene: GPAA1

Linked Data

• ClinVar Variation Id: 2877468
• ClinVar RCV Id: RCV003712932
• gnomAD v4: 8-144084484-G-A
• MyVariant Identifiers: chr8:g.145139387G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144084484G>A , CM000670.2:g.144084484G>A	GRCh38
NC_000008.10:g.145139387G>A , CM000670.1:g.145139387G>A	GRCh37
NC_000008.9:g.145211375G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000361036.11:c.705G>A	ENSP00000354316.6:p.Leu235=
ENST00000524418.6:c.843G>A	ENSP00000434544.2:p.Leu281=
ENST00000525087.6:c.669G>A	ENSP00000434485.3:p.Leu223=
ENST00000525308.2:n.1280G>A
ENST00000526341.6:c.*427G>A	ENSP00000515386.1:n.*427G>A
ENST00000527144.6:c.733G>A	ENSP00000515403.1:p.Ala245Thr
ENST00000528073.6:c.*203G>A	ENSP00000435119.1:n.*203G>A
ENST00000529503.6:c.*332G>A	ENSP00000435024.1:n.*332G>A
ENST00000529638.2:n.982G>A
ENST00000530258.2:n.1290G>A
ENST00000530796.2:n.976G>A
ENST00000531593.2:n.670G>A
ENST00000532758.6:n.1492G>A
ENST00000703441.1:n.986G>A
ENST00000703620.1:c.879G>A	ENSP00000515404.1:p.Leu293=
ENST00000703621.1:c.885G>A	ENSP00000515405.1:p.Leu295=
ENST00000703622.1:c.885G>A	ENSP00000515406.1:p.Leu295=
ENST00000703623.1:n.716G>A
ENST00000703631.1:c.631G>A	ENSP00000515409.1:p.Ala211Thr
ENST00000703632.1:n.1064G>A
ENST00000703633.1:c.843G>A	ENSP00000515410.1:p.Leu281=
ENST00000703634.1:c.631G>A
ENST00000703635.1:c.519G>A	ENSP00000515412.1:p.Leu173=
ENST00000703647.1:n.1199G>A
ENST00000703648.1:c.885G>A	ENSP00000515415.1:p.Leu295=
ENST00000703649.1:c.885G>A	ENSP00000515416.1:p.Leu295=
ENST00000703650.1:n.1188G>A
ENST00000703651.1:n.948G>A
ENST00000703652.1:n.550G>A
ENST00000703653.1:n.786G>A
ENST00000703654.1:n.509G>A
ENST00000703670.1:n.1236G>A
ENST00000703671.1:n.1277G>A
ENST00000703672.1:c.*322G>A	ENSP00000515424.1:n.*322G>A
ENST00000703673.1:n.747G>A
ENST00000703674.1:n.581G>A
ENST00000703675.1:n.1171G>A
ENST00000703676.1:n.670G>A
ENST00000703678.1:n.656G>A
ENST00000703679.1:n.468G>A
ENST00000703680.1:n.749G>A
ENST00000703681.1:n.1243G>A
ENST00000703682.1:c.394G>A
ENST00000703720.1:c.*332G>A	ENSP00000515449.1:n.*332G>A
ENST00000703721.1:n.1070G>A
ENST00000703722.1:n.948G>A
ENST00000703723.1:n.1336G>A
ENST00000703724.1:n.107G>A
ENST00000703725.1:c.885G>A	ENSP00000515450.1:p.Leu295=
ENST00000704789.1:c.483G>A	ENSP00000516036.1:p.Leu161=
ENST00000704790.1:n.1167G>A
ENST00000704791.1:c.527G>A
ENST00000704793.1:n.312G>A
ENST00000704794.1:c.519G>A	ENSP00000516039.1:p.Leu173=
ENST00000704795.1:n.829G>A
ENST00000704796.1:n.868G>A
ENST00000704797.1:n.1218G>A
ENST00000704798.1:n.655G>A
ENST00000704799.1:n.684G>A
ENST00000704806.1:c.705G>A	ENSP00000516043.1:p.Leu235=
ENST00000704807.1:c.879G>A	ENSP00000516044.1:p.Leu293=
ENST00000704808.1:c.885G>A	ENSP00000516045.1:p.Leu295=
ENST00000704809.1:c.843G>A	ENSP00000516046.1:p.Leu281=
ENST00000704810.1:n.990G>A
ENST00000704811.1:c.631G>A
ENST00000704812.1:n.634G>A
ENST00000704813.1:n.532G>A
ENST00000355091.9:c.885G>A MANE Select	ENSP00000347206.4:p.Leu295=
ENST00000355091.8:c.885G>A	ENSP00000347206.4:p.Leu295=
ENST00000361036.10:c.705G>A	ENSP00000354316.6:p.Leu235=
ENST00000525087.5:c.669G>A	ENSP00000434485.2:p.Leu223=
ENST00000526233.5:n.236G>A
ENST00000527144.5:n.568G>A
ENST00000527653.1:n.357G>A
ENST00000528073.5:c.*203G>A	ENSP00000435119.1:n.*203G>A
ENST00000529638.1:n.212G>A
ENST00000530633.1:c.*332G>A	ENSP00000431233.1:n.*332G>A
NM_003801.3:c.885G>A	NP_003792.1:p.Leu295=
NM_003801.4:c.885G>A MANE Select	NP_003792.1:p.Leu295=