Canonical Allele Identifier: CA4932938

Gene: GPAA1

Linked Data

• dbSNP Id: rs782474668
• ExAC: 8:145139291 C / T
• gnomAD v2: 8-145139291-C-T
• gnomAD v3: 8-144084388-C-T
• gnomAD v4: 8-144084388-C-T
• MyVariant Identifiers: chr8:g.145139291C>T (hg19) ; chr8:g.144084388C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144084388C>T , CM000670.2:g.144084388C>T	GRCh38
NC_000008.10:g.145139291C>T , CM000670.1:g.145139291C>T	GRCh37
NC_000008.9:g.145211279C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361036.11:c.634-25C>T	ENSP00000354316.6:n.634-25C>T
ENST00000524418.6:c.772-25C>T	ENSP00000434544.2:n.772-25C>T
ENST00000525087.6:c.598-25C>T	ENSP00000434485.3:n.598-25C>T
ENST00000525308.2:n.1209-25C>T
ENST00000526341.6:c.*356-25C>T	ENSP00000515386.1:n.*356-25C>T
ENST00000527144.6:c.662-25C>T	ENSP00000515403.1:n.662-25C>T
ENST00000528073.6:c.*132-25C>T	ENSP00000435119.1:n.*132-25C>T
ENST00000529503.6:c.*261-25C>T	ENSP00000435024.1:n.*261-25C>T
ENST00000529638.2:n.911-25C>T
ENST00000530258.2:n.1219-25C>T
ENST00000530796.2:n.905-25C>T
ENST00000531593.2:n.599-25C>T
ENST00000532758.6:n.1421-25C>T
ENST00000703441.1:n.915-25C>T
ENST00000703620.1:c.814-31C>T	ENSP00000515404.1:n.814-31C>T
ENST00000703621.1:c.814-25C>T	ENSP00000515405.1:n.814-25C>T
ENST00000703622.1:c.814-25C>T	ENSP00000515406.1:n.814-25C>T
ENST00000703623.1:n.645-25C>T
ENST00000703631.1:c.560-25C>T	ENSP00000515409.1:n.560-25C>T
ENST00000703632.1:n.968C>T
ENST00000703633.1:c.813+58C>T	ENSP00000515410.1:n.813+58C>T
ENST00000703634.1:c.560-25C>T
ENST00000703635.1:c.448-25C>T	ENSP00000515412.1:n.448-25C>T
ENST00000703647.1:n.1128-25C>T
ENST00000703648.1:c.814-25C>T	ENSP00000515415.1:n.814-25C>T
ENST00000703649.1:c.814-25C>T	ENSP00000515416.1:n.814-25C>T
ENST00000703650.1:n.1117-25C>T
ENST00000703651.1:n.877-25C>T
ENST00000703652.1:n.479-25C>T
ENST00000703653.1:n.715-25C>T
ENST00000703654.1:n.438-25C>T
ENST00000703670.1:n.1165-25C>T
ENST00000703671.1:n.1181C>T
ENST00000703672.1:c.*251-25C>T	ENSP00000515424.1:n.*251-25C>T
ENST00000703673.1:n.676-25C>T
ENST00000703674.1:n.510-25C>T
ENST00000703675.1:n.1100-25C>T
ENST00000703676.1:n.599-25C>T
ENST00000703678.1:n.585-25C>T
ENST00000703679.1:n.397-25C>T
ENST00000703680.1:n.678-25C>T
ENST00000703681.1:n.1147C>T
ENST00000703682.1:c.323-25C>T
ENST00000703720.1:c.*261-25C>T	ENSP00000515449.1:n.*261-25C>T
ENST00000703721.1:n.974C>T
ENST00000703722.1:n.877-25C>T
ENST00000703723.1:n.1240C>T
ENST00000703724.1:n.36-25C>T
ENST00000703725.1:c.814-25C>T	ENSP00000515450.1:n.814-25C>T
ENST00000704789.1:c.412-25C>T	ENSP00000516036.1:n.412-25C>T
ENST00000704790.1:n.1096-25C>T
ENST00000704791.1:c.456-25C>T
ENST00000704793.1:n.241-25C>T
ENST00000704794.1:c.448-25C>T	ENSP00000516039.1:n.448-25C>T
ENST00000704795.1:n.758-25C>T
ENST00000704796.1:n.772C>T
ENST00000704797.1:n.1147-25C>T
ENST00000704798.1:n.559C>T
ENST00000704799.1:n.613-25C>T
ENST00000704806.1:c.634-25C>T	ENSP00000516043.1:n.634-25C>T
ENST00000704807.1:c.814-31C>T	ENSP00000516044.1:n.814-31C>T
ENST00000704808.1:c.814-25C>T	ENSP00000516045.1:n.814-25C>T
ENST00000704809.1:c.772-25C>T	ENSP00000516046.1:n.772-25C>T
ENST00000704810.1:n.919-25C>T
ENST00000704811.1:c.560-25C>T
ENST00000704812.1:n.563-25C>T
ENST00000704813.1:n.461-25C>T
ENST00000355091.9:c.814-25C>T MANE Select	ENSP00000347206.4:n.814-25C>T
ENST00000355091.8:c.814-25C>T	ENSP00000347206.4:n.814-25C>T
ENST00000361036.10:c.634-25C>T	ENSP00000354316.6:n.634-25C>T
ENST00000525087.5:c.598-25C>T	ENSP00000434485.2:n.598-25C>T
ENST00000526233.5:n.165-25C>T
ENST00000527144.5:n.497-25C>T
ENST00000527653.1:n.261C>T
ENST00000528073.5:c.*132-25C>T	ENSP00000435119.1:n.*132-25C>T
ENST00000529638.1:n.141-25C>T
ENST00000530633.1:c.*261-25C>T	ENSP00000431233.1:n.*261-25C>T
NM_003801.3:c.814-25C>T	NP_003792.1:n.814-25C>T
NM_003801.4:c.814-25C>T MANE Select	NP_003792.1:n.814-25C>T