Canonical Allele Identifier: CA463540856

Gene: GPAA1

Linked Data

• MyVariant Identifiers: chr8:g.145139378C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144084475C>A , CM000670.2:g.144084475C>A	GRCh38
NC_000008.10:g.145139378C>A , CM000670.1:g.145139378C>A	GRCh37
NC_000008.9:g.145211366C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000361036.11:c.696C>A	ENSP00000354316.6:p.Leu232=
ENST00000524418.6:c.834C>A	ENSP00000434544.2:p.Leu278=
ENST00000525087.6:c.660C>A	ENSP00000434485.3:p.Leu220=
ENST00000525308.2:n.1271C>A
ENST00000526341.6:c.*418C>A	ENSP00000515386.1:n.*418C>A
ENST00000527144.6:c.724C>A	ENSP00000515403.1:p.His242Asn
ENST00000528073.6:c.*194C>A	ENSP00000435119.1:n.*194C>A
ENST00000529503.6:c.*323C>A	ENSP00000435024.1:n.*323C>A
ENST00000529638.2:n.973C>A
ENST00000530258.2:n.1281C>A
ENST00000530796.2:n.967C>A
ENST00000531593.2:n.661C>A
ENST00000532758.6:n.1483C>A
ENST00000703441.1:n.977C>A
ENST00000703620.1:c.870C>A	ENSP00000515404.1:p.Leu290=
ENST00000703621.1:c.876C>A	ENSP00000515405.1:p.Leu292=
ENST00000703622.1:c.876C>A	ENSP00000515406.1:p.Leu292=
ENST00000703623.1:n.707C>A
ENST00000703631.1:c.622C>A	ENSP00000515409.1:p.His208Asn
ENST00000703632.1:n.1055C>A
ENST00000703633.1:c.834C>A	ENSP00000515410.1:p.Leu278=
ENST00000703634.1:c.622C>A
ENST00000703635.1:c.510C>A	ENSP00000515412.1:p.Leu170=
ENST00000703647.1:n.1190C>A
ENST00000703648.1:c.876C>A	ENSP00000515415.1:p.Leu292=
ENST00000703649.1:c.876C>A	ENSP00000515416.1:p.Leu292=
ENST00000703650.1:n.1179C>A
ENST00000703651.1:n.939C>A
ENST00000703652.1:n.541C>A
ENST00000703653.1:n.777C>A
ENST00000703654.1:n.500C>A
ENST00000703670.1:n.1227C>A
ENST00000703671.1:n.1268C>A
ENST00000703672.1:c.*313C>A	ENSP00000515424.1:n.*313C>A
ENST00000703673.1:n.738C>A
ENST00000703674.1:n.572C>A
ENST00000703675.1:n.1162C>A
ENST00000703676.1:n.661C>A
ENST00000703678.1:n.647C>A
ENST00000703679.1:n.459C>A
ENST00000703680.1:n.740C>A
ENST00000703681.1:n.1234C>A
ENST00000703682.1:c.385C>A
ENST00000703720.1:c.*323C>A	ENSP00000515449.1:n.*323C>A
ENST00000703721.1:n.1061C>A
ENST00000703722.1:n.939C>A
ENST00000703723.1:n.1327C>A
ENST00000703724.1:n.98C>A
ENST00000703725.1:c.876C>A	ENSP00000515450.1:p.Leu292=
ENST00000704789.1:c.474C>A	ENSP00000516036.1:p.Leu158=
ENST00000704790.1:n.1158C>A
ENST00000704791.1:c.518C>A
ENST00000704793.1:n.303C>A
ENST00000704794.1:c.510C>A	ENSP00000516039.1:p.Leu170=
ENST00000704795.1:n.820C>A
ENST00000704796.1:n.859C>A
ENST00000704797.1:n.1209C>A
ENST00000704798.1:n.646C>A
ENST00000704799.1:n.675C>A
ENST00000704806.1:c.696C>A	ENSP00000516043.1:p.Leu232=
ENST00000704807.1:c.870C>A	ENSP00000516044.1:p.Leu290=
ENST00000704808.1:c.876C>A	ENSP00000516045.1:p.Leu292=
ENST00000704809.1:c.834C>A	ENSP00000516046.1:p.Leu278=
ENST00000704810.1:n.981C>A
ENST00000704811.1:c.622C>A
ENST00000704812.1:n.625C>A
ENST00000704813.1:n.523C>A
ENST00000355091.9:c.876C>A MANE Select	ENSP00000347206.4:p.Leu292=
ENST00000355091.8:c.876C>A	ENSP00000347206.4:p.Leu292=
ENST00000361036.10:c.696C>A	ENSP00000354316.6:p.Leu232=
ENST00000525087.5:c.660C>A	ENSP00000434485.2:p.Leu220=
ENST00000526233.5:n.227C>A
ENST00000527144.5:n.559C>A
ENST00000527653.1:n.348C>A
ENST00000528073.5:c.*194C>A	ENSP00000435119.1:n.*194C>A
ENST00000529638.1:n.203C>A
ENST00000530633.1:c.*323C>A	ENSP00000431233.1:n.*323C>A
NM_003801.3:c.876C>A	NP_003792.1:p.Leu292=
NM_003801.4:c.876C>A MANE Select	NP_003792.1:p.Leu292=