Canonical Allele Identifier: CA372498291

Gene: GPAA1

Linked Data

• dbSNP Id: rs1835961371
• gnomAD v3: 8-144084476-A-G
• gnomAD v4: 8-144084476-A-G
• MyVariant Identifiers: chr8:g.145139379A>G (hg19) ; chr8:g.144084476A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144084476A>G , CM000670.2:g.144084476A>G	GRCh38
NC_000008.10:g.145139379A>G , CM000670.1:g.145139379A>G	GRCh37
NC_000008.9:g.145211367A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000361036.11:c.697A>G	ENSP00000354316.6:p.Met233Val
ENST00000524418.6:c.835A>G	ENSP00000434544.2:p.Met279Val
ENST00000525087.6:c.661A>G	ENSP00000434485.3:p.Met221Val
ENST00000525308.2:n.1272A>G
ENST00000526341.6:c.*419A>G	ENSP00000515386.1:n.*419A>G
ENST00000527144.6:c.725A>G	ENSP00000515403.1:p.His242Arg
ENST00000528073.6:c.*195A>G	ENSP00000435119.1:n.*195A>G
ENST00000529503.6:c.*324A>G	ENSP00000435024.1:n.*324A>G
ENST00000529638.2:n.974A>G
ENST00000530258.2:n.1282A>G
ENST00000530796.2:n.968A>G
ENST00000531593.2:n.662A>G
ENST00000532758.6:n.1484A>G
ENST00000703441.1:n.978A>G
ENST00000703620.1:c.871A>G	ENSP00000515404.1:p.Met291Val
ENST00000703621.1:c.877A>G	ENSP00000515405.1:p.Met293Val
ENST00000703622.1:c.877A>G	ENSP00000515406.1:p.Met293Val
ENST00000703623.1:n.708A>G
ENST00000703631.1:c.623A>G	ENSP00000515409.1:p.His208Arg
ENST00000703632.1:n.1056A>G
ENST00000703633.1:c.835A>G	ENSP00000515410.1:p.Met279Val
ENST00000703634.1:c.623A>G
ENST00000703635.1:c.511A>G	ENSP00000515412.1:p.Met171Val
ENST00000703647.1:n.1191A>G
ENST00000703648.1:c.877A>G	ENSP00000515415.1:p.Met293Val
ENST00000703649.1:c.877A>G	ENSP00000515416.1:p.Met293Val
ENST00000703650.1:n.1180A>G
ENST00000703651.1:n.940A>G
ENST00000703652.1:n.542A>G
ENST00000703653.1:n.778A>G
ENST00000703654.1:n.501A>G
ENST00000703670.1:n.1228A>G
ENST00000703671.1:n.1269A>G
ENST00000703672.1:c.*314A>G	ENSP00000515424.1:n.*314A>G
ENST00000703673.1:n.739A>G
ENST00000703674.1:n.573A>G
ENST00000703675.1:n.1163A>G
ENST00000703676.1:n.662A>G
ENST00000703678.1:n.648A>G
ENST00000703679.1:n.460A>G
ENST00000703680.1:n.741A>G
ENST00000703681.1:n.1235A>G
ENST00000703682.1:c.386A>G
ENST00000703720.1:c.*324A>G	ENSP00000515449.1:n.*324A>G
ENST00000703721.1:n.1062A>G
ENST00000703722.1:n.940A>G
ENST00000703723.1:n.1328A>G
ENST00000703724.1:n.99A>G
ENST00000703725.1:c.877A>G	ENSP00000515450.1:p.Met293Val
ENST00000704789.1:c.475A>G	ENSP00000516036.1:p.Met159Val
ENST00000704790.1:n.1159A>G
ENST00000704791.1:c.519A>G
ENST00000704793.1:n.304A>G
ENST00000704794.1:c.511A>G	ENSP00000516039.1:p.Met171Val
ENST00000704795.1:n.821A>G
ENST00000704796.1:n.860A>G
ENST00000704797.1:n.1210A>G
ENST00000704798.1:n.647A>G
ENST00000704799.1:n.676A>G
ENST00000704806.1:c.697A>G	ENSP00000516043.1:p.Met233Val
ENST00000704807.1:c.871A>G	ENSP00000516044.1:p.Met291Val
ENST00000704808.1:c.877A>G	ENSP00000516045.1:p.Met293Val
ENST00000704809.1:c.835A>G	ENSP00000516046.1:p.Met279Val
ENST00000704810.1:n.982A>G
ENST00000704811.1:c.623A>G
ENST00000704812.1:n.626A>G
ENST00000704813.1:n.524A>G
ENST00000355091.9:c.877A>G MANE Select	ENSP00000347206.4:p.Met293Val
ENST00000355091.8:c.877A>G	ENSP00000347206.4:p.Met293Val
ENST00000361036.10:c.697A>G	ENSP00000354316.6:p.Met233Val
ENST00000525087.5:c.661A>G	ENSP00000434485.2:p.Met221Val
ENST00000526233.5:n.228A>G
ENST00000527144.5:n.560A>G
ENST00000527653.1:n.349A>G
ENST00000528073.5:c.*195A>G	ENSP00000435119.1:n.*195A>G
ENST00000529638.1:n.204A>G
ENST00000530633.1:c.*324A>G	ENSP00000431233.1:n.*324A>G
NM_003801.3:c.877A>G	NP_003792.1:p.Met293Val
NM_003801.4:c.877A>G MANE Select	NP_003792.1:p.Met293Val