Canonical Allele Identifier: CA372498379

Gene: GPAA1

Linked Data

• MyVariant Identifiers: chr8:g.145139383T>G (hg19) ; chr8:g.144084480T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144084480T>G , CM000670.2:g.144084480T>G	GRCh38
NC_000008.10:g.145139383T>G , CM000670.1:g.145139383T>G	GRCh37
NC_000008.9:g.145211371T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000361036.11:c.701T>G	ENSP00000354316.6:p.Val234Gly
ENST00000524418.6:c.839T>G	ENSP00000434544.2:p.Val280Gly
ENST00000525087.6:c.665T>G	ENSP00000434485.3:p.Val222Gly
ENST00000525308.2:n.1276T>G
ENST00000526341.6:c.*423T>G	ENSP00000515386.1:n.*423T>G
ENST00000527144.6:c.729T>G	ENSP00000515403.1:p.Gly243=
ENST00000528073.6:c.*199T>G	ENSP00000435119.1:n.*199T>G
ENST00000529503.6:c.*328T>G	ENSP00000435024.1:n.*328T>G
ENST00000529638.2:n.978T>G
ENST00000530258.2:n.1286T>G
ENST00000530796.2:n.972T>G
ENST00000531593.2:n.666T>G
ENST00000532758.6:n.1488T>G
ENST00000703441.1:n.982T>G
ENST00000703620.1:c.875T>G	ENSP00000515404.1:p.Val292Gly
ENST00000703621.1:c.881T>G	ENSP00000515405.1:p.Val294Gly
ENST00000703622.1:c.881T>G	ENSP00000515406.1:p.Val294Gly
ENST00000703623.1:n.712T>G
ENST00000703631.1:c.627T>G	ENSP00000515409.1:p.Gly209=
ENST00000703632.1:n.1060T>G
ENST00000703633.1:c.839T>G	ENSP00000515410.1:p.Val280Gly
ENST00000703634.1:c.627T>G
ENST00000703635.1:c.515T>G	ENSP00000515412.1:p.Val172Gly
ENST00000703647.1:n.1195T>G
ENST00000703648.1:c.881T>G	ENSP00000515415.1:p.Val294Gly
ENST00000703649.1:c.881T>G	ENSP00000515416.1:p.Val294Gly
ENST00000703650.1:n.1184T>G
ENST00000703651.1:n.944T>G
ENST00000703652.1:n.546T>G
ENST00000703653.1:n.782T>G
ENST00000703654.1:n.505T>G
ENST00000703670.1:n.1232T>G
ENST00000703671.1:n.1273T>G
ENST00000703672.1:c.*318T>G	ENSP00000515424.1:n.*318T>G
ENST00000703673.1:n.743T>G
ENST00000703674.1:n.577T>G
ENST00000703675.1:n.1167T>G
ENST00000703676.1:n.666T>G
ENST00000703678.1:n.652T>G
ENST00000703679.1:n.464T>G
ENST00000703680.1:n.745T>G
ENST00000703681.1:n.1239T>G
ENST00000703682.1:c.390T>G
ENST00000703720.1:c.*328T>G	ENSP00000515449.1:n.*328T>G
ENST00000703721.1:n.1066T>G
ENST00000703722.1:n.944T>G
ENST00000703723.1:n.1332T>G
ENST00000703724.1:n.103T>G
ENST00000703725.1:c.881T>G	ENSP00000515450.1:p.Val294Gly
ENST00000704789.1:c.479T>G	ENSP00000516036.1:p.Val160Gly
ENST00000704790.1:n.1163T>G
ENST00000704791.1:c.523T>G
ENST00000704793.1:n.308T>G
ENST00000704794.1:c.515T>G	ENSP00000516039.1:p.Val172Gly
ENST00000704795.1:n.825T>G
ENST00000704796.1:n.864T>G
ENST00000704797.1:n.1214T>G
ENST00000704798.1:n.651T>G
ENST00000704799.1:n.680T>G
ENST00000704806.1:c.701T>G	ENSP00000516043.1:p.Val234Gly
ENST00000704807.1:c.875T>G	ENSP00000516044.1:p.Val292Gly
ENST00000704808.1:c.881T>G	ENSP00000516045.1:p.Val294Gly
ENST00000704809.1:c.839T>G	ENSP00000516046.1:p.Val280Gly
ENST00000704810.1:n.986T>G
ENST00000704811.1:c.627T>G
ENST00000704812.1:n.630T>G
ENST00000704813.1:n.528T>G
ENST00000355091.9:c.881T>G MANE Select	ENSP00000347206.4:p.Val294Gly
ENST00000355091.8:c.881T>G	ENSP00000347206.4:p.Val294Gly
ENST00000361036.10:c.701T>G	ENSP00000354316.6:p.Val234Gly
ENST00000525087.5:c.665T>G	ENSP00000434485.2:p.Val222Gly
ENST00000526233.5:n.232T>G
ENST00000527144.5:n.564T>G
ENST00000527653.1:n.353T>G
ENST00000528073.5:c.*199T>G	ENSP00000435119.1:n.*199T>G
ENST00000529638.1:n.208T>G
ENST00000530633.1:c.*328T>G	ENSP00000431233.1:n.*328T>G
NM_003801.3:c.881T>G	NP_003792.1:p.Val294Gly
NM_003801.4:c.881T>G MANE Select	NP_003792.1:p.Val294Gly