Canonical Allele Identifier: CA2580078653

Gene: GPAA1

Linked Data

• ClinVar Variation Id: 2007144
• ClinVar RCV Id: RCV002842101
• gnomAD v4: 8-144084399-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144084399C>T , CM000670.2:g.144084399C>T	GRCh38
NC_000008.10:g.145139302C>T , CM000670.1:g.145139302C>T	GRCh37
NC_000008.9:g.145211290C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361036.11:c.634-14C>T	ENSP00000354316.6:n.634-14C>T
ENST00000524418.6:c.772-14C>T	ENSP00000434544.2:n.772-14C>T
ENST00000525087.6:c.598-14C>T	ENSP00000434485.3:n.598-14C>T
ENST00000525308.2:n.1209-14C>T
ENST00000526341.6:c.*356-14C>T	ENSP00000515386.1:n.*356-14C>T
ENST00000527144.6:c.662-14C>T	ENSP00000515403.1:n.662-14C>T
ENST00000528073.6:c.*132-14C>T	ENSP00000435119.1:n.*132-14C>T
ENST00000529503.6:c.*261-14C>T	ENSP00000435024.1:n.*261-14C>T
ENST00000529638.2:n.911-14C>T
ENST00000530258.2:n.1219-14C>T
ENST00000530796.2:n.905-14C>T
ENST00000531593.2:n.599-14C>T
ENST00000532758.6:n.1421-14C>T
ENST00000703441.1:n.915-14C>T
ENST00000703620.1:c.814-20C>T	ENSP00000515404.1:n.814-20C>T
ENST00000703621.1:c.814-14C>T	ENSP00000515405.1:n.814-14C>T
ENST00000703622.1:c.814-14C>T	ENSP00000515406.1:n.814-14C>T
ENST00000703623.1:n.645-14C>T
ENST00000703631.1:c.560-14C>T	ENSP00000515409.1:n.560-14C>T
ENST00000703632.1:n.979C>T
ENST00000703633.1:c.814-56C>T	ENSP00000515410.1:n.814-56C>T
ENST00000703634.1:c.560-14C>T
ENST00000703635.1:c.448-14C>T	ENSP00000515412.1:n.448-14C>T
ENST00000703647.1:n.1128-14C>T
ENST00000703648.1:c.814-14C>T	ENSP00000515415.1:n.814-14C>T
ENST00000703649.1:c.814-14C>T	ENSP00000515416.1:n.814-14C>T
ENST00000703650.1:n.1117-14C>T
ENST00000703651.1:n.877-14C>T
ENST00000703652.1:n.479-14C>T
ENST00000703653.1:n.715-14C>T
ENST00000703654.1:n.438-14C>T
ENST00000703670.1:n.1165-14C>T
ENST00000703671.1:n.1192C>T
ENST00000703672.1:c.*251-14C>T	ENSP00000515424.1:n.*251-14C>T
ENST00000703673.1:n.676-14C>T
ENST00000703674.1:n.510-14C>T
ENST00000703675.1:n.1100-14C>T
ENST00000703676.1:n.599-14C>T
ENST00000703678.1:n.585-14C>T
ENST00000703679.1:n.397-14C>T
ENST00000703680.1:n.678-14C>T
ENST00000703681.1:n.1158C>T
ENST00000703682.1:c.323-14C>T
ENST00000703720.1:c.*261-14C>T	ENSP00000515449.1:n.*261-14C>T
ENST00000703721.1:n.985C>T
ENST00000703722.1:n.877-14C>T
ENST00000703723.1:n.1251C>T
ENST00000703724.1:n.36-14C>T
ENST00000703725.1:c.814-14C>T	ENSP00000515450.1:n.814-14C>T
ENST00000704789.1:c.412-14C>T	ENSP00000516036.1:n.412-14C>T
ENST00000704790.1:n.1096-14C>T
ENST00000704791.1:c.456-14C>T
ENST00000704793.1:n.241-14C>T
ENST00000704794.1:c.448-14C>T	ENSP00000516039.1:n.448-14C>T
ENST00000704795.1:n.758-14C>T
ENST00000704796.1:n.783C>T
ENST00000704797.1:n.1147-14C>T
ENST00000704798.1:n.570C>T
ENST00000704799.1:n.613-14C>T
ENST00000704806.1:c.634-14C>T	ENSP00000516043.1:n.634-14C>T
ENST00000704807.1:c.814-20C>T	ENSP00000516044.1:n.814-20C>T
ENST00000704808.1:c.814-14C>T	ENSP00000516045.1:n.814-14C>T
ENST00000704809.1:c.772-14C>T	ENSP00000516046.1:n.772-14C>T
ENST00000704810.1:n.919-14C>T
ENST00000704811.1:c.560-14C>T
ENST00000704812.1:n.563-14C>T
ENST00000704813.1:n.461-14C>T
ENST00000355091.9:c.814-14C>T MANE Select	ENSP00000347206.4:n.814-14C>T
ENST00000355091.8:c.814-14C>T	ENSP00000347206.4:n.814-14C>T
ENST00000361036.10:c.634-14C>T	ENSP00000354316.6:n.634-14C>T
ENST00000525087.5:c.598-14C>T	ENSP00000434485.2:n.598-14C>T
ENST00000526233.5:n.165-14C>T
ENST00000527144.5:n.497-14C>T
ENST00000527653.1:n.272C>T
ENST00000528073.5:c.*132-14C>T	ENSP00000435119.1:n.*132-14C>T
ENST00000529638.1:n.141-14C>T
ENST00000530633.1:c.*261-14C>T	ENSP00000431233.1:n.*261-14C>T
NM_003801.3:c.814-14C>T	NP_003792.1:n.814-14C>T
NM_003801.4:c.814-14C>T MANE Select	NP_003792.1:n.814-14C>T