Canonical Allele Identifier: CA372498250

Gene: GPAA1

Linked Data

• dbSNP Id: rs1473698648
• MyVariant Identifiers: chr8:g.145139377T>A (hg19) ; chr8:g.144084474T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144084474T>A , CM000670.2:g.144084474T>A	GRCh38
NC_000008.10:g.145139377T>A , CM000670.1:g.145139377T>A	GRCh37
NC_000008.9:g.145211365T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000361036.11:c.695T>A	ENSP00000354316.6:p.Leu232His
ENST00000524418.6:c.833T>A	ENSP00000434544.2:p.Leu278His
ENST00000525087.6:c.659T>A	ENSP00000434485.3:p.Leu220His
ENST00000525308.2:n.1270T>A
ENST00000526341.6:c.*417T>A	ENSP00000515386.1:n.*417T>A
ENST00000527144.6:c.723T>A	ENSP00000515403.1:p.Ala241=
ENST00000528073.6:c.*193T>A	ENSP00000435119.1:n.*193T>A
ENST00000529503.6:c.*322T>A	ENSP00000435024.1:n.*322T>A
ENST00000529638.2:n.972T>A
ENST00000530258.2:n.1280T>A
ENST00000530796.2:n.966T>A
ENST00000531593.2:n.660T>A
ENST00000532758.6:n.1482T>A
ENST00000703441.1:n.976T>A
ENST00000703620.1:c.869T>A	ENSP00000515404.1:p.Leu290His
ENST00000703621.1:c.875T>A	ENSP00000515405.1:p.Leu292His
ENST00000703622.1:c.875T>A	ENSP00000515406.1:p.Leu292His
ENST00000703623.1:n.706T>A
ENST00000703631.1:c.621T>A	ENSP00000515409.1:p.Ala207=
ENST00000703632.1:n.1054T>A
ENST00000703633.1:c.833T>A	ENSP00000515410.1:p.Leu278His
ENST00000703634.1:c.621T>A
ENST00000703635.1:c.509T>A	ENSP00000515412.1:p.Leu170His
ENST00000703647.1:n.1189T>A
ENST00000703648.1:c.875T>A	ENSP00000515415.1:p.Leu292His
ENST00000703649.1:c.875T>A	ENSP00000515416.1:p.Leu292His
ENST00000703650.1:n.1178T>A
ENST00000703651.1:n.938T>A
ENST00000703652.1:n.540T>A
ENST00000703653.1:n.776T>A
ENST00000703654.1:n.499T>A
ENST00000703670.1:n.1226T>A
ENST00000703671.1:n.1267T>A
ENST00000703672.1:c.*312T>A	ENSP00000515424.1:n.*312T>A
ENST00000703673.1:n.737T>A
ENST00000703674.1:n.571T>A
ENST00000703675.1:n.1161T>A
ENST00000703676.1:n.660T>A
ENST00000703678.1:n.646T>A
ENST00000703679.1:n.458T>A
ENST00000703680.1:n.739T>A
ENST00000703681.1:n.1233T>A
ENST00000703682.1:c.384T>A
ENST00000703720.1:c.*322T>A	ENSP00000515449.1:n.*322T>A
ENST00000703721.1:n.1060T>A
ENST00000703722.1:n.938T>A
ENST00000703723.1:n.1326T>A
ENST00000703724.1:n.97T>A
ENST00000703725.1:c.875T>A	ENSP00000515450.1:p.Leu292His
ENST00000704789.1:c.473T>A	ENSP00000516036.1:p.Leu158His
ENST00000704790.1:n.1157T>A
ENST00000704791.1:c.517T>A
ENST00000704793.1:n.302T>A
ENST00000704794.1:c.509T>A	ENSP00000516039.1:p.Leu170His
ENST00000704795.1:n.819T>A
ENST00000704796.1:n.858T>A
ENST00000704797.1:n.1208T>A
ENST00000704798.1:n.645T>A
ENST00000704799.1:n.674T>A
ENST00000704806.1:c.695T>A	ENSP00000516043.1:p.Leu232His
ENST00000704807.1:c.869T>A	ENSP00000516044.1:p.Leu290His
ENST00000704808.1:c.875T>A	ENSP00000516045.1:p.Leu292His
ENST00000704809.1:c.833T>A	ENSP00000516046.1:p.Leu278His
ENST00000704810.1:n.980T>A
ENST00000704811.1:c.621T>A
ENST00000704812.1:n.624T>A
ENST00000704813.1:n.522T>A
ENST00000355091.9:c.875T>A MANE Select	ENSP00000347206.4:p.Leu292His
ENST00000355091.8:c.875T>A	ENSP00000347206.4:p.Leu292His
ENST00000361036.10:c.695T>A	ENSP00000354316.6:p.Leu232His
ENST00000525087.5:c.659T>A	ENSP00000434485.2:p.Leu220His
ENST00000526233.5:n.226T>A
ENST00000527144.5:n.558T>A
ENST00000527653.1:n.347T>A
ENST00000528073.5:c.*193T>A	ENSP00000435119.1:n.*193T>A
ENST00000529638.1:n.202T>A
ENST00000530633.1:c.*322T>A	ENSP00000431233.1:n.*322T>A
NM_003801.3:c.875T>A	NP_003792.1:p.Leu292His
NM_003801.4:c.875T>A MANE Select	NP_003792.1:p.Leu292His