Canonical Allele Identifier: CA372498243

Gene: GPAA1

Linked Data

• MyVariant Identifiers: chr8:g.145139376C>G (hg19) ; chr8:g.144084473C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144084473C>G , CM000670.2:g.144084473C>G	GRCh38
NC_000008.10:g.145139376C>G , CM000670.1:g.145139376C>G	GRCh37
NC_000008.9:g.145211364C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000361036.11:c.694C>G	ENSP00000354316.6:p.Leu232Val
ENST00000524418.6:c.832C>G	ENSP00000434544.2:p.Leu278Val
ENST00000525087.6:c.658C>G	ENSP00000434485.3:p.Leu220Val
ENST00000525308.2:n.1269C>G
ENST00000526341.6:c.*416C>G	ENSP00000515386.1:n.*416C>G
ENST00000527144.6:c.722C>G	ENSP00000515403.1:p.Ala241Gly
ENST00000528073.6:c.*192C>G	ENSP00000435119.1:n.*192C>G
ENST00000529503.6:c.*321C>G	ENSP00000435024.1:n.*321C>G
ENST00000529638.2:n.971C>G
ENST00000530258.2:n.1279C>G
ENST00000530796.2:n.965C>G
ENST00000531593.2:n.659C>G
ENST00000532758.6:n.1481C>G
ENST00000703441.1:n.975C>G
ENST00000703620.1:c.868C>G	ENSP00000515404.1:p.Leu290Val
ENST00000703621.1:c.874C>G	ENSP00000515405.1:p.Leu292Val
ENST00000703622.1:c.874C>G	ENSP00000515406.1:p.Leu292Val
ENST00000703623.1:n.705C>G
ENST00000703631.1:c.620C>G	ENSP00000515409.1:p.Ala207Gly
ENST00000703632.1:n.1053C>G
ENST00000703633.1:c.832C>G	ENSP00000515410.1:p.Leu278Val
ENST00000703634.1:c.620C>G
ENST00000703635.1:c.508C>G	ENSP00000515412.1:p.Leu170Val
ENST00000703647.1:n.1188C>G
ENST00000703648.1:c.874C>G	ENSP00000515415.1:p.Leu292Val
ENST00000703649.1:c.874C>G	ENSP00000515416.1:p.Leu292Val
ENST00000703650.1:n.1177C>G
ENST00000703651.1:n.937C>G
ENST00000703652.1:n.539C>G
ENST00000703653.1:n.775C>G
ENST00000703654.1:n.498C>G
ENST00000703670.1:n.1225C>G
ENST00000703671.1:n.1266C>G
ENST00000703672.1:c.*311C>G	ENSP00000515424.1:n.*311C>G
ENST00000703673.1:n.736C>G
ENST00000703674.1:n.570C>G
ENST00000703675.1:n.1160C>G
ENST00000703676.1:n.659C>G
ENST00000703678.1:n.645C>G
ENST00000703679.1:n.457C>G
ENST00000703680.1:n.738C>G
ENST00000703681.1:n.1232C>G
ENST00000703682.1:c.383C>G
ENST00000703720.1:c.*321C>G	ENSP00000515449.1:n.*321C>G
ENST00000703721.1:n.1059C>G
ENST00000703722.1:n.937C>G
ENST00000703723.1:n.1325C>G
ENST00000703724.1:n.96C>G
ENST00000703725.1:c.874C>G	ENSP00000515450.1:p.Leu292Val
ENST00000704789.1:c.472C>G	ENSP00000516036.1:p.Leu158Val
ENST00000704790.1:n.1156C>G
ENST00000704791.1:c.516C>G
ENST00000704793.1:n.301C>G
ENST00000704794.1:c.508C>G	ENSP00000516039.1:p.Leu170Val
ENST00000704795.1:n.818C>G
ENST00000704796.1:n.857C>G
ENST00000704797.1:n.1207C>G
ENST00000704798.1:n.644C>G
ENST00000704799.1:n.673C>G
ENST00000704806.1:c.694C>G	ENSP00000516043.1:p.Leu232Val
ENST00000704807.1:c.868C>G	ENSP00000516044.1:p.Leu290Val
ENST00000704808.1:c.874C>G	ENSP00000516045.1:p.Leu292Val
ENST00000704809.1:c.832C>G	ENSP00000516046.1:p.Leu278Val
ENST00000704810.1:n.979C>G
ENST00000704811.1:c.620C>G
ENST00000704812.1:n.623C>G
ENST00000704813.1:n.521C>G
ENST00000355091.9:c.874C>G MANE Select	ENSP00000347206.4:p.Leu292Val
ENST00000355091.8:c.874C>G	ENSP00000347206.4:p.Leu292Val
ENST00000361036.10:c.694C>G	ENSP00000354316.6:p.Leu232Val
ENST00000525087.5:c.658C>G	ENSP00000434485.2:p.Leu220Val
ENST00000526233.5:n.225C>G
ENST00000527144.5:n.557C>G
ENST00000527653.1:n.346C>G
ENST00000528073.5:c.*192C>G	ENSP00000435119.1:n.*192C>G
ENST00000529638.1:n.201C>G
ENST00000530633.1:c.*321C>G	ENSP00000431233.1:n.*321C>G
NM_003801.3:c.874C>G	NP_003792.1:p.Leu292Val
NM_003801.4:c.874C>G MANE Select	NP_003792.1:p.Leu292Val