Canonical Allele Identifier: CA2689040391

Gene: GPAA1

Linked Data

• gnomAD v4: 8-144084390-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144084390C>A , CM000670.2:g.144084390C>A	GRCh38
NC_000008.10:g.145139293C>A , CM000670.1:g.145139293C>A	GRCh37
NC_000008.9:g.145211281C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000361036.11:c.634-23C>A	ENSP00000354316.6:n.634-23C>A
ENST00000524418.6:c.772-23C>A	ENSP00000434544.2:n.772-23C>A
ENST00000525087.6:c.598-23C>A	ENSP00000434485.3:n.598-23C>A
ENST00000525308.2:n.1209-23C>A
ENST00000526341.6:c.*356-23C>A	ENSP00000515386.1:n.*356-23C>A
ENST00000527144.6:c.662-23C>A	ENSP00000515403.1:n.662-23C>A
ENST00000528073.6:c.*132-23C>A	ENSP00000435119.1:n.*132-23C>A
ENST00000529503.6:c.*261-23C>A	ENSP00000435024.1:n.*261-23C>A
ENST00000529638.2:n.911-23C>A
ENST00000530258.2:n.1219-23C>A
ENST00000530796.2:n.905-23C>A
ENST00000531593.2:n.599-23C>A
ENST00000532758.6:n.1421-23C>A
ENST00000703441.1:n.915-23C>A
ENST00000703620.1:c.814-29C>A	ENSP00000515404.1:n.814-29C>A
ENST00000703621.1:c.814-23C>A	ENSP00000515405.1:n.814-23C>A
ENST00000703622.1:c.814-23C>A	ENSP00000515406.1:n.814-23C>A
ENST00000703623.1:n.645-23C>A
ENST00000703631.1:c.560-23C>A	ENSP00000515409.1:n.560-23C>A
ENST00000703632.1:n.970C>A
ENST00000703633.1:c.813+60C>A	ENSP00000515410.1:n.813+60C>A
ENST00000703634.1:c.560-23C>A
ENST00000703635.1:c.448-23C>A	ENSP00000515412.1:n.448-23C>A
ENST00000703647.1:n.1128-23C>A
ENST00000703648.1:c.814-23C>A	ENSP00000515415.1:n.814-23C>A
ENST00000703649.1:c.814-23C>A	ENSP00000515416.1:n.814-23C>A
ENST00000703650.1:n.1117-23C>A
ENST00000703651.1:n.877-23C>A
ENST00000703652.1:n.479-23C>A
ENST00000703653.1:n.715-23C>A
ENST00000703654.1:n.438-23C>A
ENST00000703670.1:n.1165-23C>A
ENST00000703671.1:n.1183C>A
ENST00000703672.1:c.*251-23C>A	ENSP00000515424.1:n.*251-23C>A
ENST00000703673.1:n.676-23C>A
ENST00000703674.1:n.510-23C>A
ENST00000703675.1:n.1100-23C>A
ENST00000703676.1:n.599-23C>A
ENST00000703678.1:n.585-23C>A
ENST00000703679.1:n.397-23C>A
ENST00000703680.1:n.678-23C>A
ENST00000703681.1:n.1149C>A
ENST00000703682.1:c.323-23C>A
ENST00000703720.1:c.*261-23C>A	ENSP00000515449.1:n.*261-23C>A
ENST00000703721.1:n.976C>A
ENST00000703722.1:n.877-23C>A
ENST00000703723.1:n.1242C>A
ENST00000703724.1:n.36-23C>A
ENST00000703725.1:c.814-23C>A	ENSP00000515450.1:n.814-23C>A
ENST00000704789.1:c.412-23C>A	ENSP00000516036.1:n.412-23C>A
ENST00000704790.1:n.1096-23C>A
ENST00000704791.1:c.456-23C>A
ENST00000704793.1:n.241-23C>A
ENST00000704794.1:c.448-23C>A	ENSP00000516039.1:n.448-23C>A
ENST00000704795.1:n.758-23C>A
ENST00000704796.1:n.774C>A
ENST00000704797.1:n.1147-23C>A
ENST00000704798.1:n.561C>A
ENST00000704799.1:n.613-23C>A
ENST00000704806.1:c.634-23C>A	ENSP00000516043.1:n.634-23C>A
ENST00000704807.1:c.814-29C>A	ENSP00000516044.1:n.814-29C>A
ENST00000704808.1:c.814-23C>A	ENSP00000516045.1:n.814-23C>A
ENST00000704809.1:c.772-23C>A	ENSP00000516046.1:n.772-23C>A
ENST00000704810.1:n.919-23C>A
ENST00000704811.1:c.560-23C>A
ENST00000704812.1:n.563-23C>A
ENST00000704813.1:n.461-23C>A
ENST00000355091.9:c.814-23C>A MANE Select	ENSP00000347206.4:n.814-23C>A
ENST00000355091.8:c.814-23C>A	ENSP00000347206.4:n.814-23C>A
ENST00000361036.10:c.634-23C>A	ENSP00000354316.6:n.634-23C>A
ENST00000525087.5:c.598-23C>A	ENSP00000434485.2:n.598-23C>A
ENST00000526233.5:n.165-23C>A
ENST00000527144.5:n.497-23C>A
ENST00000527653.1:n.263C>A
ENST00000528073.5:c.*132-23C>A	ENSP00000435119.1:n.*132-23C>A
ENST00000529638.1:n.141-23C>A
ENST00000530633.1:c.*261-23C>A	ENSP00000431233.1:n.*261-23C>A
NM_003801.3:c.814-23C>A	NP_003792.1:n.814-23C>A
NM_003801.4:c.814-23C>A MANE Select	NP_003792.1:n.814-23C>A