Canonical Allele Identifier: CA463540845

Gene: GPAA1

Linked Data

• MyVariant Identifiers: chr8:g.145139375G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144084472G>C , CM000670.2:g.144084472G>C	GRCh38
NC_000008.10:g.145139375G>C , CM000670.1:g.145139375G>C	GRCh37
NC_000008.9:g.145211363G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000361036.11:c.693G>C	ENSP00000354316.6:p.Leu231=
ENST00000524418.6:c.831G>C	ENSP00000434544.2:p.Leu277=
ENST00000525087.6:c.657G>C	ENSP00000434485.3:p.Leu219=
ENST00000525308.2:n.1268G>C
ENST00000526341.6:c.*415G>C	ENSP00000515386.1:n.*415G>C
ENST00000527144.6:c.721G>C	ENSP00000515403.1:p.Ala241Pro
ENST00000528073.6:c.*191G>C	ENSP00000435119.1:n.*191G>C
ENST00000529503.6:c.*320G>C	ENSP00000435024.1:n.*320G>C
ENST00000529638.2:n.970G>C
ENST00000530258.2:n.1278G>C
ENST00000530796.2:n.964G>C
ENST00000531593.2:n.658G>C
ENST00000532758.6:n.1480G>C
ENST00000703441.1:n.974G>C
ENST00000703620.1:c.867G>C	ENSP00000515404.1:p.Leu289=
ENST00000703621.1:c.873G>C	ENSP00000515405.1:p.Leu291=
ENST00000703622.1:c.873G>C	ENSP00000515406.1:p.Leu291=
ENST00000703623.1:n.704G>C
ENST00000703631.1:c.619G>C	ENSP00000515409.1:p.Ala207Pro
ENST00000703632.1:n.1052G>C
ENST00000703633.1:c.831G>C	ENSP00000515410.1:p.Leu277=
ENST00000703634.1:c.619G>C
ENST00000703635.1:c.507G>C	ENSP00000515412.1:p.Leu169=
ENST00000703647.1:n.1187G>C
ENST00000703648.1:c.873G>C	ENSP00000515415.1:p.Leu291=
ENST00000703649.1:c.873G>C	ENSP00000515416.1:p.Leu291=
ENST00000703650.1:n.1176G>C
ENST00000703651.1:n.936G>C
ENST00000703652.1:n.538G>C
ENST00000703653.1:n.774G>C
ENST00000703654.1:n.497G>C
ENST00000703670.1:n.1224G>C
ENST00000703671.1:n.1265G>C
ENST00000703672.1:c.*310G>C	ENSP00000515424.1:n.*310G>C
ENST00000703673.1:n.735G>C
ENST00000703674.1:n.569G>C
ENST00000703675.1:n.1159G>C
ENST00000703676.1:n.658G>C
ENST00000703678.1:n.644G>C
ENST00000703679.1:n.456G>C
ENST00000703680.1:n.737G>C
ENST00000703681.1:n.1231G>C
ENST00000703682.1:c.382G>C
ENST00000703720.1:c.*320G>C	ENSP00000515449.1:n.*320G>C
ENST00000703721.1:n.1058G>C
ENST00000703722.1:n.936G>C
ENST00000703723.1:n.1324G>C
ENST00000703724.1:n.95G>C
ENST00000703725.1:c.873G>C	ENSP00000515450.1:p.Leu291=
ENST00000704789.1:c.471G>C	ENSP00000516036.1:p.Leu157=
ENST00000704790.1:n.1155G>C
ENST00000704791.1:c.515G>C
ENST00000704793.1:n.300G>C
ENST00000704794.1:c.507G>C	ENSP00000516039.1:p.Leu169=
ENST00000704795.1:n.817G>C
ENST00000704796.1:n.856G>C
ENST00000704797.1:n.1206G>C
ENST00000704798.1:n.643G>C
ENST00000704799.1:n.672G>C
ENST00000704806.1:c.693G>C	ENSP00000516043.1:p.Leu231=
ENST00000704807.1:c.867G>C	ENSP00000516044.1:p.Leu289=
ENST00000704808.1:c.873G>C	ENSP00000516045.1:p.Leu291=
ENST00000704809.1:c.831G>C	ENSP00000516046.1:p.Leu277=
ENST00000704810.1:n.978G>C
ENST00000704811.1:c.619G>C
ENST00000704812.1:n.622G>C
ENST00000704813.1:n.520G>C
ENST00000355091.9:c.873G>C MANE Select	ENSP00000347206.4:p.Leu291=
ENST00000355091.8:c.873G>C	ENSP00000347206.4:p.Leu291=
ENST00000361036.10:c.693G>C	ENSP00000354316.6:p.Leu231=
ENST00000525087.5:c.657G>C	ENSP00000434485.2:p.Leu219=
ENST00000526233.5:n.224G>C
ENST00000527144.5:n.556G>C
ENST00000527653.1:n.345G>C
ENST00000528073.5:c.*191G>C	ENSP00000435119.1:n.*191G>C
ENST00000529638.1:n.200G>C
ENST00000530633.1:c.*320G>C	ENSP00000431233.1:n.*320G>C
NM_003801.3:c.873G>C	NP_003792.1:p.Leu291=
NM_003801.4:c.873G>C MANE Select	NP_003792.1:p.Leu291=