Canonical Allele Identifier: CA372498391

Gene: GPAA1

Linked Data

• dbSNP Id: rs1426249515
• MyVariant Identifiers: chr8:g.145139385C>G (hg19) ; chr8:g.144084482C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144084482C>G , CM000670.2:g.144084482C>G	GRCh38
NC_000008.10:g.145139385C>G , CM000670.1:g.145139385C>G	GRCh37
NC_000008.9:g.145211373C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000361036.11:c.703C>G	ENSP00000354316.6:p.Leu235Val
ENST00000524418.6:c.841C>G	ENSP00000434544.2:p.Leu281Val
ENST00000525087.6:c.667C>G	ENSP00000434485.3:p.Leu223Val
ENST00000525308.2:n.1278C>G
ENST00000526341.6:c.*425C>G	ENSP00000515386.1:n.*425C>G
ENST00000527144.6:c.731C>G	ENSP00000515403.1:p.Ser244Cys
ENST00000528073.6:c.*201C>G	ENSP00000435119.1:n.*201C>G
ENST00000529503.6:c.*330C>G	ENSP00000435024.1:n.*330C>G
ENST00000529638.2:n.980C>G
ENST00000530258.2:n.1288C>G
ENST00000530796.2:n.974C>G
ENST00000531593.2:n.668C>G
ENST00000532758.6:n.1490C>G
ENST00000703441.1:n.984C>G
ENST00000703620.1:c.877C>G	ENSP00000515404.1:p.Leu293Val
ENST00000703621.1:c.883C>G	ENSP00000515405.1:p.Leu295Val
ENST00000703622.1:c.883C>G	ENSP00000515406.1:p.Leu295Val
ENST00000703623.1:n.714C>G
ENST00000703631.1:c.629C>G	ENSP00000515409.1:p.Ser210Cys
ENST00000703632.1:n.1062C>G
ENST00000703633.1:c.841C>G	ENSP00000515410.1:p.Leu281Val
ENST00000703634.1:c.629C>G
ENST00000703635.1:c.517C>G	ENSP00000515412.1:p.Leu173Val
ENST00000703647.1:n.1197C>G
ENST00000703648.1:c.883C>G	ENSP00000515415.1:p.Leu295Val
ENST00000703649.1:c.883C>G	ENSP00000515416.1:p.Leu295Val
ENST00000703650.1:n.1186C>G
ENST00000703651.1:n.946C>G
ENST00000703652.1:n.548C>G
ENST00000703653.1:n.784C>G
ENST00000703654.1:n.507C>G
ENST00000703670.1:n.1234C>G
ENST00000703671.1:n.1275C>G
ENST00000703672.1:c.*320C>G	ENSP00000515424.1:n.*320C>G
ENST00000703673.1:n.745C>G
ENST00000703674.1:n.579C>G
ENST00000703675.1:n.1169C>G
ENST00000703676.1:n.668C>G
ENST00000703678.1:n.654C>G
ENST00000703679.1:n.466C>G
ENST00000703680.1:n.747C>G
ENST00000703681.1:n.1241C>G
ENST00000703682.1:c.392C>G
ENST00000703720.1:c.*330C>G	ENSP00000515449.1:n.*330C>G
ENST00000703721.1:n.1068C>G
ENST00000703722.1:n.946C>G
ENST00000703723.1:n.1334C>G
ENST00000703724.1:n.105C>G
ENST00000703725.1:c.883C>G	ENSP00000515450.1:p.Leu295Val
ENST00000704789.1:c.481C>G	ENSP00000516036.1:p.Leu161Val
ENST00000704790.1:n.1165C>G
ENST00000704791.1:c.525C>G
ENST00000704793.1:n.310C>G
ENST00000704794.1:c.517C>G	ENSP00000516039.1:p.Leu173Val
ENST00000704795.1:n.827C>G
ENST00000704796.1:n.866C>G
ENST00000704797.1:n.1216C>G
ENST00000704798.1:n.653C>G
ENST00000704799.1:n.682C>G
ENST00000704806.1:c.703C>G	ENSP00000516043.1:p.Leu235Val
ENST00000704807.1:c.877C>G	ENSP00000516044.1:p.Leu293Val
ENST00000704808.1:c.883C>G	ENSP00000516045.1:p.Leu295Val
ENST00000704809.1:c.841C>G	ENSP00000516046.1:p.Leu281Val
ENST00000704810.1:n.988C>G
ENST00000704811.1:c.629C>G
ENST00000704812.1:n.632C>G
ENST00000704813.1:n.530C>G
ENST00000355091.9:c.883C>G MANE Select	ENSP00000347206.4:p.Leu295Val
ENST00000355091.8:c.883C>G	ENSP00000347206.4:p.Leu295Val
ENST00000361036.10:c.703C>G	ENSP00000354316.6:p.Leu235Val
ENST00000525087.5:c.667C>G	ENSP00000434485.2:p.Leu223Val
ENST00000526233.5:n.234C>G
ENST00000527144.5:n.566C>G
ENST00000527653.1:n.355C>G
ENST00000528073.5:c.*201C>G	ENSP00000435119.1:n.*201C>G
ENST00000529638.1:n.210C>G
ENST00000530633.1:c.*330C>G	ENSP00000431233.1:n.*330C>G
NM_003801.3:c.883C>G	NP_003792.1:p.Leu295Val
NM_003801.4:c.883C>G MANE Select	NP_003792.1:p.Leu295Val