Canonical Allele Identifier: CA372498339

Gene: GPAA1

Linked Data

• dbSNP Id: rs1368999801
• gnomAD v2: 8-145139382-G-A
• gnomAD v3: 8-144084479-G-A
• gnomAD v4: 8-144084479-G-A
• MyVariant Identifiers: chr8:g.145139382G>A (hg19) ; chr8:g.144084479G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144084479G>A , CM000670.2:g.144084479G>A	GRCh38
NC_000008.10:g.145139382G>A , CM000670.1:g.145139382G>A	GRCh37
NC_000008.9:g.145211370G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000361036.11:c.700G>A	ENSP00000354316.6:p.Val234Ile
ENST00000524418.6:c.838G>A	ENSP00000434544.2:p.Val280Ile
ENST00000525087.6:c.664G>A	ENSP00000434485.3:p.Val222Ile
ENST00000525308.2:n.1275G>A
ENST00000526341.6:c.*422G>A	ENSP00000515386.1:n.*422G>A
ENST00000527144.6:c.728G>A	ENSP00000515403.1:p.Gly243Asp
ENST00000528073.6:c.*198G>A	ENSP00000435119.1:n.*198G>A
ENST00000529503.6:c.*327G>A	ENSP00000435024.1:n.*327G>A
ENST00000529638.2:n.977G>A
ENST00000530258.2:n.1285G>A
ENST00000530796.2:n.971G>A
ENST00000531593.2:n.665G>A
ENST00000532758.6:n.1487G>A
ENST00000703441.1:n.981G>A
ENST00000703620.1:c.874G>A	ENSP00000515404.1:p.Val292Ile
ENST00000703621.1:c.880G>A	ENSP00000515405.1:p.Val294Ile
ENST00000703622.1:c.880G>A	ENSP00000515406.1:p.Val294Ile
ENST00000703623.1:n.711G>A
ENST00000703631.1:c.626G>A	ENSP00000515409.1:p.Gly209Asp
ENST00000703632.1:n.1059G>A
ENST00000703633.1:c.838G>A	ENSP00000515410.1:p.Val280Ile
ENST00000703634.1:c.626G>A
ENST00000703635.1:c.514G>A	ENSP00000515412.1:p.Val172Ile
ENST00000703647.1:n.1194G>A
ENST00000703648.1:c.880G>A	ENSP00000515415.1:p.Val294Ile
ENST00000703649.1:c.880G>A	ENSP00000515416.1:p.Val294Ile
ENST00000703650.1:n.1183G>A
ENST00000703651.1:n.943G>A
ENST00000703652.1:n.545G>A
ENST00000703653.1:n.781G>A
ENST00000703654.1:n.504G>A
ENST00000703670.1:n.1231G>A
ENST00000703671.1:n.1272G>A
ENST00000703672.1:c.*317G>A	ENSP00000515424.1:n.*317G>A
ENST00000703673.1:n.742G>A
ENST00000703674.1:n.576G>A
ENST00000703675.1:n.1166G>A
ENST00000703676.1:n.665G>A
ENST00000703678.1:n.651G>A
ENST00000703679.1:n.463G>A
ENST00000703680.1:n.744G>A
ENST00000703681.1:n.1238G>A
ENST00000703682.1:c.389G>A
ENST00000703720.1:c.*327G>A	ENSP00000515449.1:n.*327G>A
ENST00000703721.1:n.1065G>A
ENST00000703722.1:n.943G>A
ENST00000703723.1:n.1331G>A
ENST00000703724.1:n.102G>A
ENST00000703725.1:c.880G>A	ENSP00000515450.1:p.Val294Ile
ENST00000704789.1:c.478G>A	ENSP00000516036.1:p.Val160Ile
ENST00000704790.1:n.1162G>A
ENST00000704791.1:c.522G>A
ENST00000704793.1:n.307G>A
ENST00000704794.1:c.514G>A	ENSP00000516039.1:p.Val172Ile
ENST00000704795.1:n.824G>A
ENST00000704796.1:n.863G>A
ENST00000704797.1:n.1213G>A
ENST00000704798.1:n.650G>A
ENST00000704799.1:n.679G>A
ENST00000704806.1:c.700G>A	ENSP00000516043.1:p.Val234Ile
ENST00000704807.1:c.874G>A	ENSP00000516044.1:p.Val292Ile
ENST00000704808.1:c.880G>A	ENSP00000516045.1:p.Val294Ile
ENST00000704809.1:c.838G>A	ENSP00000516046.1:p.Val280Ile
ENST00000704810.1:n.985G>A
ENST00000704811.1:c.626G>A
ENST00000704812.1:n.629G>A
ENST00000704813.1:n.527G>A
ENST00000355091.9:c.880G>A MANE Select	ENSP00000347206.4:p.Val294Ile
ENST00000355091.8:c.880G>A	ENSP00000347206.4:p.Val294Ile
ENST00000361036.10:c.700G>A	ENSP00000354316.6:p.Val234Ile
ENST00000525087.5:c.664G>A	ENSP00000434485.2:p.Val222Ile
ENST00000526233.5:n.231G>A
ENST00000527144.5:n.563G>A
ENST00000527653.1:n.352G>A
ENST00000528073.5:c.*198G>A	ENSP00000435119.1:n.*198G>A
ENST00000529638.1:n.207G>A
ENST00000530633.1:c.*327G>A	ENSP00000431233.1:n.*327G>A
NM_003801.3:c.880G>A	NP_003792.1:p.Val294Ile
NM_003801.4:c.880G>A MANE Select	NP_003792.1:p.Val294Ile