Canonical Allele Identifier: CA372498308

Gene: GPAA1

Linked Data

• MyVariant Identifiers: chr8:g.145139381G>C (hg19) ; chr8:g.144084478G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144084478G>C , CM000670.2:g.144084478G>C	GRCh38
NC_000008.10:g.145139381G>C , CM000670.1:g.145139381G>C	GRCh37
NC_000008.9:g.145211369G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000361036.11:c.699G>C	ENSP00000354316.6:p.Met233Ile
ENST00000524418.6:c.837G>C	ENSP00000434544.2:p.Met279Ile
ENST00000525087.6:c.663G>C	ENSP00000434485.3:p.Met221Ile
ENST00000525308.2:n.1274G>C
ENST00000526341.6:c.*421G>C	ENSP00000515386.1:n.*421G>C
ENST00000527144.6:c.727G>C	ENSP00000515403.1:p.Gly243Arg
ENST00000528073.6:c.*197G>C	ENSP00000435119.1:n.*197G>C
ENST00000529503.6:c.*326G>C	ENSP00000435024.1:n.*326G>C
ENST00000529638.2:n.976G>C
ENST00000530258.2:n.1284G>C
ENST00000530796.2:n.970G>C
ENST00000531593.2:n.664G>C
ENST00000532758.6:n.1486G>C
ENST00000703441.1:n.980G>C
ENST00000703620.1:c.873G>C	ENSP00000515404.1:p.Met291Ile
ENST00000703621.1:c.879G>C	ENSP00000515405.1:p.Met293Ile
ENST00000703622.1:c.879G>C	ENSP00000515406.1:p.Met293Ile
ENST00000703623.1:n.710G>C
ENST00000703631.1:c.625G>C	ENSP00000515409.1:p.Gly209Arg
ENST00000703632.1:n.1058G>C
ENST00000703633.1:c.837G>C	ENSP00000515410.1:p.Met279Ile
ENST00000703634.1:c.625G>C
ENST00000703635.1:c.513G>C	ENSP00000515412.1:p.Met171Ile
ENST00000703647.1:n.1193G>C
ENST00000703648.1:c.879G>C	ENSP00000515415.1:p.Met293Ile
ENST00000703649.1:c.879G>C	ENSP00000515416.1:p.Met293Ile
ENST00000703650.1:n.1182G>C
ENST00000703651.1:n.942G>C
ENST00000703652.1:n.544G>C
ENST00000703653.1:n.780G>C
ENST00000703654.1:n.503G>C
ENST00000703670.1:n.1230G>C
ENST00000703671.1:n.1271G>C
ENST00000703672.1:c.*316G>C	ENSP00000515424.1:n.*316G>C
ENST00000703673.1:n.741G>C
ENST00000703674.1:n.575G>C
ENST00000703675.1:n.1165G>C
ENST00000703676.1:n.664G>C
ENST00000703678.1:n.650G>C
ENST00000703679.1:n.462G>C
ENST00000703680.1:n.743G>C
ENST00000703681.1:n.1237G>C
ENST00000703682.1:c.388G>C
ENST00000703720.1:c.*326G>C	ENSP00000515449.1:n.*326G>C
ENST00000703721.1:n.1064G>C
ENST00000703722.1:n.942G>C
ENST00000703723.1:n.1330G>C
ENST00000703724.1:n.101G>C
ENST00000703725.1:c.879G>C	ENSP00000515450.1:p.Met293Ile
ENST00000704789.1:c.477G>C	ENSP00000516036.1:p.Met159Ile
ENST00000704790.1:n.1161G>C
ENST00000704791.1:c.521G>C
ENST00000704793.1:n.306G>C
ENST00000704794.1:c.513G>C	ENSP00000516039.1:p.Met171Ile
ENST00000704795.1:n.823G>C
ENST00000704796.1:n.862G>C
ENST00000704797.1:n.1212G>C
ENST00000704798.1:n.649G>C
ENST00000704799.1:n.678G>C
ENST00000704806.1:c.699G>C	ENSP00000516043.1:p.Met233Ile
ENST00000704807.1:c.873G>C	ENSP00000516044.1:p.Met291Ile
ENST00000704808.1:c.879G>C	ENSP00000516045.1:p.Met293Ile
ENST00000704809.1:c.837G>C	ENSP00000516046.1:p.Met279Ile
ENST00000704810.1:n.984G>C
ENST00000704811.1:c.625G>C
ENST00000704812.1:n.628G>C
ENST00000704813.1:n.526G>C
ENST00000355091.9:c.879G>C MANE Select	ENSP00000347206.4:p.Met293Ile
ENST00000355091.8:c.879G>C	ENSP00000347206.4:p.Met293Ile
ENST00000361036.10:c.699G>C	ENSP00000354316.6:p.Met233Ile
ENST00000525087.5:c.663G>C	ENSP00000434485.2:p.Met221Ile
ENST00000526233.5:n.230G>C
ENST00000527144.5:n.562G>C
ENST00000527653.1:n.351G>C
ENST00000528073.5:c.*197G>C	ENSP00000435119.1:n.*197G>C
ENST00000529638.1:n.206G>C
ENST00000530633.1:c.*326G>C	ENSP00000431233.1:n.*326G>C
NM_003801.3:c.879G>C	NP_003792.1:p.Met293Ile
NM_003801.4:c.879G>C MANE Select	NP_003792.1:p.Met293Ile