Canonical Allele Identifier: CA2689040393

Gene: GPAA1

Linked Data

• gnomAD v4: 8-144084391-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144084391A>C , CM000670.2:g.144084391A>C	GRCh38
NC_000008.10:g.145139294A>C , CM000670.1:g.145139294A>C	GRCh37
NC_000008.9:g.145211282A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361036.11:c.634-22A>C	ENSP00000354316.6:n.634-22A>C
ENST00000524418.6:c.772-22A>C	ENSP00000434544.2:n.772-22A>C
ENST00000525087.6:c.598-22A>C	ENSP00000434485.3:n.598-22A>C
ENST00000525308.2:n.1209-22A>C
ENST00000526341.6:c.*356-22A>C	ENSP00000515386.1:n.*356-22A>C
ENST00000527144.6:c.662-22A>C	ENSP00000515403.1:n.662-22A>C
ENST00000528073.6:c.*132-22A>C	ENSP00000435119.1:n.*132-22A>C
ENST00000529503.6:c.*261-22A>C	ENSP00000435024.1:n.*261-22A>C
ENST00000529638.2:n.911-22A>C
ENST00000530258.2:n.1219-22A>C
ENST00000530796.2:n.905-22A>C
ENST00000531593.2:n.599-22A>C
ENST00000532758.6:n.1421-22A>C
ENST00000703441.1:n.915-22A>C
ENST00000703620.1:c.814-28A>C	ENSP00000515404.1:n.814-28A>C
ENST00000703621.1:c.814-22A>C	ENSP00000515405.1:n.814-22A>C
ENST00000703622.1:c.814-22A>C	ENSP00000515406.1:n.814-22A>C
ENST00000703623.1:n.645-22A>C
ENST00000703631.1:c.560-22A>C	ENSP00000515409.1:n.560-22A>C
ENST00000703632.1:n.971A>C
ENST00000703633.1:c.813+61A>C	ENSP00000515410.1:n.813+61A>C
ENST00000703634.1:c.560-22A>C
ENST00000703635.1:c.448-22A>C	ENSP00000515412.1:n.448-22A>C
ENST00000703647.1:n.1128-22A>C
ENST00000703648.1:c.814-22A>C	ENSP00000515415.1:n.814-22A>C
ENST00000703649.1:c.814-22A>C	ENSP00000515416.1:n.814-22A>C
ENST00000703650.1:n.1117-22A>C
ENST00000703651.1:n.877-22A>C
ENST00000703652.1:n.479-22A>C
ENST00000703653.1:n.715-22A>C
ENST00000703654.1:n.438-22A>C
ENST00000703670.1:n.1165-22A>C
ENST00000703671.1:n.1184A>C
ENST00000703672.1:c.*251-22A>C	ENSP00000515424.1:n.*251-22A>C
ENST00000703673.1:n.676-22A>C
ENST00000703674.1:n.510-22A>C
ENST00000703675.1:n.1100-22A>C
ENST00000703676.1:n.599-22A>C
ENST00000703678.1:n.585-22A>C
ENST00000703679.1:n.397-22A>C
ENST00000703680.1:n.678-22A>C
ENST00000703681.1:n.1150A>C
ENST00000703682.1:c.323-22A>C
ENST00000703720.1:c.*261-22A>C	ENSP00000515449.1:n.*261-22A>C
ENST00000703721.1:n.977A>C
ENST00000703722.1:n.877-22A>C
ENST00000703723.1:n.1243A>C
ENST00000703724.1:n.36-22A>C
ENST00000703725.1:c.814-22A>C	ENSP00000515450.1:n.814-22A>C
ENST00000704789.1:c.412-22A>C	ENSP00000516036.1:n.412-22A>C
ENST00000704790.1:n.1096-22A>C
ENST00000704791.1:c.456-22A>C
ENST00000704793.1:n.241-22A>C
ENST00000704794.1:c.448-22A>C	ENSP00000516039.1:n.448-22A>C
ENST00000704795.1:n.758-22A>C
ENST00000704796.1:n.775A>C
ENST00000704797.1:n.1147-22A>C
ENST00000704798.1:n.562A>C
ENST00000704799.1:n.613-22A>C
ENST00000704806.1:c.634-22A>C	ENSP00000516043.1:n.634-22A>C
ENST00000704807.1:c.814-28A>C	ENSP00000516044.1:n.814-28A>C
ENST00000704808.1:c.814-22A>C	ENSP00000516045.1:n.814-22A>C
ENST00000704809.1:c.772-22A>C	ENSP00000516046.1:n.772-22A>C
ENST00000704810.1:n.919-22A>C
ENST00000704811.1:c.560-22A>C
ENST00000704812.1:n.563-22A>C
ENST00000704813.1:n.461-22A>C
ENST00000355091.9:c.814-22A>C MANE Select	ENSP00000347206.4:n.814-22A>C
ENST00000355091.8:c.814-22A>C	ENSP00000347206.4:n.814-22A>C
ENST00000361036.10:c.634-22A>C	ENSP00000354316.6:n.634-22A>C
ENST00000525087.5:c.598-22A>C	ENSP00000434485.2:n.598-22A>C
ENST00000526233.5:n.165-22A>C
ENST00000527144.5:n.497-22A>C
ENST00000527653.1:n.264A>C
ENST00000528073.5:c.*132-22A>C	ENSP00000435119.1:n.*132-22A>C
ENST00000529638.1:n.141-22A>C
ENST00000530633.1:c.*261-22A>C	ENSP00000431233.1:n.*261-22A>C
NM_003801.3:c.814-22A>C	NP_003792.1:n.814-22A>C
NM_003801.4:c.814-22A>C MANE Select	NP_003792.1:n.814-22A>C