Canonical Allele Identifier: CA372498426

Gene: GPAA1

Linked Data

• gnomAD v4: 8-144084485-C-G
• MyVariant Identifiers: chr8:g.145139388C>G (hg19) ; chr8:g.144084485C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144084485C>G , CM000670.2:g.144084485C>G	GRCh38
NC_000008.10:g.145139388C>G , CM000670.1:g.145139388C>G	GRCh37
NC_000008.9:g.145211376C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361036.11:c.706C>G	ENSP00000354316.6:p.Arg236Gly
ENST00000524418.6:c.844C>G	ENSP00000434544.2:p.Arg282Gly
ENST00000525087.6:c.670C>G	ENSP00000434485.3:p.Arg224Gly
ENST00000525308.2:n.1281C>G
ENST00000526341.6:c.*428C>G	ENSP00000515386.1:n.*428C>G
ENST00000527144.6:c.734C>G	ENSP00000515403.1:p.Ala245Gly
ENST00000528073.6:c.*204C>G	ENSP00000435119.1:n.*204C>G
ENST00000529503.6:c.*333C>G	ENSP00000435024.1:n.*333C>G
ENST00000529638.2:n.983C>G
ENST00000530258.2:n.1291C>G
ENST00000530796.2:n.977C>G
ENST00000531593.2:n.671C>G
ENST00000532758.6:n.1493C>G
ENST00000703441.1:n.987C>G
ENST00000703620.1:c.880C>G	ENSP00000515404.1:p.Arg294Gly
ENST00000703621.1:c.886C>G	ENSP00000515405.1:p.Arg296Gly
ENST00000703622.1:c.886C>G	ENSP00000515406.1:p.Arg296Gly
ENST00000703623.1:n.717C>G
ENST00000703631.1:c.632C>G	ENSP00000515409.1:p.Ala211Gly
ENST00000703632.1:n.1065C>G
ENST00000703633.1:c.844C>G	ENSP00000515410.1:p.Arg282Gly
ENST00000703634.1:c.632C>G
ENST00000703635.1:c.520C>G	ENSP00000515412.1:p.Arg174Gly
ENST00000703647.1:n.1200C>G
ENST00000703648.1:c.886C>G	ENSP00000515415.1:p.Arg296Gly
ENST00000703649.1:c.886C>G	ENSP00000515416.1:p.Arg296Gly
ENST00000703650.1:n.1189C>G
ENST00000703651.1:n.949C>G
ENST00000703652.1:n.551C>G
ENST00000703653.1:n.787C>G
ENST00000703654.1:n.510C>G
ENST00000703670.1:n.1237C>G
ENST00000703671.1:n.1278C>G
ENST00000703672.1:c.*323C>G	ENSP00000515424.1:n.*323C>G
ENST00000703673.1:n.748C>G
ENST00000703674.1:n.582C>G
ENST00000703675.1:n.1172C>G
ENST00000703676.1:n.671C>G
ENST00000703678.1:n.657C>G
ENST00000703679.1:n.469C>G
ENST00000703680.1:n.750C>G
ENST00000703681.1:n.1244C>G
ENST00000703682.1:c.395C>G
ENST00000703720.1:c.*333C>G	ENSP00000515449.1:n.*333C>G
ENST00000703721.1:n.1071C>G
ENST00000703722.1:n.949C>G
ENST00000703723.1:n.1337C>G
ENST00000703724.1:n.108C>G
ENST00000703725.1:c.886C>G	ENSP00000515450.1:p.Arg296Gly
ENST00000704789.1:c.484C>G	ENSP00000516036.1:p.Arg162Gly
ENST00000704790.1:n.1168C>G
ENST00000704791.1:c.528C>G
ENST00000704793.1:n.313C>G
ENST00000704794.1:c.520C>G	ENSP00000516039.1:p.Arg174Gly
ENST00000704795.1:n.830C>G
ENST00000704796.1:n.869C>G
ENST00000704797.1:n.1219C>G
ENST00000704798.1:n.656C>G
ENST00000704799.1:n.685C>G
ENST00000704806.1:c.706C>G	ENSP00000516043.1:p.Arg236Gly
ENST00000704807.1:c.880C>G	ENSP00000516044.1:p.Arg294Gly
ENST00000704808.1:c.886C>G	ENSP00000516045.1:p.Arg296Gly
ENST00000704809.1:c.844C>G	ENSP00000516046.1:p.Arg282Gly
ENST00000704810.1:n.991C>G
ENST00000704811.1:c.632C>G
ENST00000704812.1:n.635C>G
ENST00000704813.1:n.533C>G
ENST00000355091.9:c.886C>G MANE Select	ENSP00000347206.4:p.Arg296Gly
ENST00000355091.8:c.886C>G	ENSP00000347206.4:p.Arg296Gly
ENST00000361036.10:c.706C>G	ENSP00000354316.6:p.Arg236Gly
ENST00000525087.5:c.670C>G	ENSP00000434485.2:p.Arg224Gly
ENST00000526233.5:n.237C>G
ENST00000527144.5:n.569C>G
ENST00000527653.1:n.358C>G
ENST00000528073.5:c.*204C>G	ENSP00000435119.1:n.*204C>G
ENST00000529638.1:n.213C>G
ENST00000530633.1:c.*333C>G	ENSP00000431233.1:n.*333C>G
NM_003801.3:c.886C>G	NP_003792.1:p.Arg296Gly
NM_003801.4:c.886C>G MANE Select	NP_003792.1:p.Arg296Gly