Canonical Allele Identifier: CA372498397

Gene: GPAA1

Linked Data

• MyVariant Identifiers: chr8:g.145139386T>A (hg19) ; chr8:g.144084483T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144084483T>A , CM000670.2:g.144084483T>A	GRCh38
NC_000008.10:g.145139386T>A , CM000670.1:g.145139386T>A	GRCh37
NC_000008.9:g.145211374T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000361036.11:c.704T>A	ENSP00000354316.6:p.Leu235Gln
ENST00000524418.6:c.842T>A	ENSP00000434544.2:p.Leu281Gln
ENST00000525087.6:c.668T>A	ENSP00000434485.3:p.Leu223Gln
ENST00000525308.2:n.1279T>A
ENST00000526341.6:c.*426T>A	ENSP00000515386.1:n.*426T>A
ENST00000527144.6:c.732T>A	ENSP00000515403.1:p.Ser244=
ENST00000528073.6:c.*202T>A	ENSP00000435119.1:n.*202T>A
ENST00000529503.6:c.*331T>A	ENSP00000435024.1:n.*331T>A
ENST00000529638.2:n.981T>A
ENST00000530258.2:n.1289T>A
ENST00000530796.2:n.975T>A
ENST00000531593.2:n.669T>A
ENST00000532758.6:n.1491T>A
ENST00000703441.1:n.985T>A
ENST00000703620.1:c.878T>A	ENSP00000515404.1:p.Leu293Gln
ENST00000703621.1:c.884T>A	ENSP00000515405.1:p.Leu295Gln
ENST00000703622.1:c.884T>A	ENSP00000515406.1:p.Leu295Gln
ENST00000703623.1:n.715T>A
ENST00000703631.1:c.630T>A	ENSP00000515409.1:p.Ser210=
ENST00000703632.1:n.1063T>A
ENST00000703633.1:c.842T>A	ENSP00000515410.1:p.Leu281Gln
ENST00000703634.1:c.630T>A
ENST00000703635.1:c.518T>A	ENSP00000515412.1:p.Leu173Gln
ENST00000703647.1:n.1198T>A
ENST00000703648.1:c.884T>A	ENSP00000515415.1:p.Leu295Gln
ENST00000703649.1:c.884T>A	ENSP00000515416.1:p.Leu295Gln
ENST00000703650.1:n.1187T>A
ENST00000703651.1:n.947T>A
ENST00000703652.1:n.549T>A
ENST00000703653.1:n.785T>A
ENST00000703654.1:n.508T>A
ENST00000703670.1:n.1235T>A
ENST00000703671.1:n.1276T>A
ENST00000703672.1:c.*321T>A	ENSP00000515424.1:n.*321T>A
ENST00000703673.1:n.746T>A
ENST00000703674.1:n.580T>A
ENST00000703675.1:n.1170T>A
ENST00000703676.1:n.669T>A
ENST00000703678.1:n.655T>A
ENST00000703679.1:n.467T>A
ENST00000703680.1:n.748T>A
ENST00000703681.1:n.1242T>A
ENST00000703682.1:c.393T>A
ENST00000703720.1:c.*331T>A	ENSP00000515449.1:n.*331T>A
ENST00000703721.1:n.1069T>A
ENST00000703722.1:n.947T>A
ENST00000703723.1:n.1335T>A
ENST00000703724.1:n.106T>A
ENST00000703725.1:c.884T>A	ENSP00000515450.1:p.Leu295Gln
ENST00000704789.1:c.482T>A	ENSP00000516036.1:p.Leu161Gln
ENST00000704790.1:n.1166T>A
ENST00000704791.1:c.526T>A
ENST00000704793.1:n.311T>A
ENST00000704794.1:c.518T>A	ENSP00000516039.1:p.Leu173Gln
ENST00000704795.1:n.828T>A
ENST00000704796.1:n.867T>A
ENST00000704797.1:n.1217T>A
ENST00000704798.1:n.654T>A
ENST00000704799.1:n.683T>A
ENST00000704806.1:c.704T>A	ENSP00000516043.1:p.Leu235Gln
ENST00000704807.1:c.878T>A	ENSP00000516044.1:p.Leu293Gln
ENST00000704808.1:c.884T>A	ENSP00000516045.1:p.Leu295Gln
ENST00000704809.1:c.842T>A	ENSP00000516046.1:p.Leu281Gln
ENST00000704810.1:n.989T>A
ENST00000704811.1:c.630T>A
ENST00000704812.1:n.633T>A
ENST00000704813.1:n.531T>A
ENST00000355091.9:c.884T>A MANE Select	ENSP00000347206.4:p.Leu295Gln
ENST00000355091.8:c.884T>A	ENSP00000347206.4:p.Leu295Gln
ENST00000361036.10:c.704T>A	ENSP00000354316.6:p.Leu235Gln
ENST00000525087.5:c.668T>A	ENSP00000434485.2:p.Leu223Gln
ENST00000526233.5:n.235T>A
ENST00000527144.5:n.567T>A
ENST00000527653.1:n.356T>A
ENST00000528073.5:c.*202T>A	ENSP00000435119.1:n.*202T>A
ENST00000529638.1:n.211T>A
ENST00000530633.1:c.*331T>A	ENSP00000431233.1:n.*331T>A
NM_003801.3:c.884T>A	NP_003792.1:p.Leu295Gln
NM_003801.4:c.884T>A MANE Select	NP_003792.1:p.Leu295Gln