Canonical Allele Identifier: CA463540868

Gene: GPAA1

Linked Data

• MyVariant Identifiers: chr8:g.145139384T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144084481T>A , CM000670.2:g.144084481T>A	GRCh38
NC_000008.10:g.145139384T>A , CM000670.1:g.145139384T>A	GRCh37
NC_000008.9:g.145211372T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000361036.11:c.702T>A	ENSP00000354316.6:p.Val234=
ENST00000524418.6:c.840T>A	ENSP00000434544.2:p.Val280=
ENST00000525087.6:c.666T>A	ENSP00000434485.3:p.Val222=
ENST00000525308.2:n.1277T>A
ENST00000526341.6:c.*424T>A	ENSP00000515386.1:n.*424T>A
ENST00000527144.6:c.730T>A	ENSP00000515403.1:p.Ser244Thr
ENST00000528073.6:c.*200T>A	ENSP00000435119.1:n.*200T>A
ENST00000529503.6:c.*329T>A	ENSP00000435024.1:n.*329T>A
ENST00000529638.2:n.979T>A
ENST00000530258.2:n.1287T>A
ENST00000530796.2:n.973T>A
ENST00000531593.2:n.667T>A
ENST00000532758.6:n.1489T>A
ENST00000703441.1:n.983T>A
ENST00000703620.1:c.876T>A	ENSP00000515404.1:p.Val292=
ENST00000703621.1:c.882T>A	ENSP00000515405.1:p.Val294=
ENST00000703622.1:c.882T>A	ENSP00000515406.1:p.Val294=
ENST00000703623.1:n.713T>A
ENST00000703631.1:c.628T>A	ENSP00000515409.1:p.Ser210Thr
ENST00000703632.1:n.1061T>A
ENST00000703633.1:c.840T>A	ENSP00000515410.1:p.Val280=
ENST00000703634.1:c.628T>A
ENST00000703635.1:c.516T>A	ENSP00000515412.1:p.Val172=
ENST00000703647.1:n.1196T>A
ENST00000703648.1:c.882T>A	ENSP00000515415.1:p.Val294=
ENST00000703649.1:c.882T>A	ENSP00000515416.1:p.Val294=
ENST00000703650.1:n.1185T>A
ENST00000703651.1:n.945T>A
ENST00000703652.1:n.547T>A
ENST00000703653.1:n.783T>A
ENST00000703654.1:n.506T>A
ENST00000703670.1:n.1233T>A
ENST00000703671.1:n.1274T>A
ENST00000703672.1:c.*319T>A	ENSP00000515424.1:n.*319T>A
ENST00000703673.1:n.744T>A
ENST00000703674.1:n.578T>A
ENST00000703675.1:n.1168T>A
ENST00000703676.1:n.667T>A
ENST00000703678.1:n.653T>A
ENST00000703679.1:n.465T>A
ENST00000703680.1:n.746T>A
ENST00000703681.1:n.1240T>A
ENST00000703682.1:c.391T>A
ENST00000703720.1:c.*329T>A	ENSP00000515449.1:n.*329T>A
ENST00000703721.1:n.1067T>A
ENST00000703722.1:n.945T>A
ENST00000703723.1:n.1333T>A
ENST00000703724.1:n.104T>A
ENST00000703725.1:c.882T>A	ENSP00000515450.1:p.Val294=
ENST00000704789.1:c.480T>A	ENSP00000516036.1:p.Val160=
ENST00000704790.1:n.1164T>A
ENST00000704791.1:c.524T>A
ENST00000704793.1:n.309T>A
ENST00000704794.1:c.516T>A	ENSP00000516039.1:p.Val172=
ENST00000704795.1:n.826T>A
ENST00000704796.1:n.865T>A
ENST00000704797.1:n.1215T>A
ENST00000704798.1:n.652T>A
ENST00000704799.1:n.681T>A
ENST00000704806.1:c.702T>A	ENSP00000516043.1:p.Val234=
ENST00000704807.1:c.876T>A	ENSP00000516044.1:p.Val292=
ENST00000704808.1:c.882T>A	ENSP00000516045.1:p.Val294=
ENST00000704809.1:c.840T>A	ENSP00000516046.1:p.Val280=
ENST00000704810.1:n.987T>A
ENST00000704811.1:c.628T>A
ENST00000704812.1:n.631T>A
ENST00000704813.1:n.529T>A
ENST00000355091.9:c.882T>A MANE Select	ENSP00000347206.4:p.Val294=
ENST00000355091.8:c.882T>A	ENSP00000347206.4:p.Val294=
ENST00000361036.10:c.702T>A	ENSP00000354316.6:p.Val234=
ENST00000525087.5:c.666T>A	ENSP00000434485.2:p.Val222=
ENST00000526233.5:n.233T>A
ENST00000527144.5:n.565T>A
ENST00000527653.1:n.354T>A
ENST00000528073.5:c.*200T>A	ENSP00000435119.1:n.*200T>A
ENST00000529638.1:n.209T>A
ENST00000530633.1:c.*329T>A	ENSP00000431233.1:n.*329T>A
NM_003801.3:c.882T>A	NP_003792.1:p.Val294=
NM_003801.4:c.882T>A MANE Select	NP_003792.1:p.Val294=