Canonical Allele Identifier: CA4932963

Gene: GPAA1

Linked Data

• ClinVar Variation Id: 1471836
• ClinVar RCV Id: RCV001975739 ; RCV002571316
• dbSNP Id: rs782195029
• ExAC: 8:145139389 G / A
• gnomAD v2: 8-145139389-G-A
• gnomAD v3: 8-144084486-G-A
• gnomAD v4: 8-144084486-G-A
• MyVariant Identifiers: chr8:g.145139389G>A (hg19) ; chr8:g.144084486G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144084486G>A , CM000670.2:g.144084486G>A	GRCh38
NC_000008.10:g.145139389G>A , CM000670.1:g.145139389G>A	GRCh37
NC_000008.9:g.145211377G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000361036.11:c.707G>A	ENSP00000354316.6:p.Arg236Gln
ENST00000524418.6:c.845G>A	ENSP00000434544.2:p.Arg282Gln
ENST00000525087.6:c.671G>A	ENSP00000434485.3:p.Arg224Gln
ENST00000525308.2:n.1282G>A
ENST00000526341.6:c.*429G>A	ENSP00000515386.1:n.*429G>A
ENST00000527144.6:c.735G>A	ENSP00000515403.1:p.Ala245=
ENST00000528073.6:c.*205G>A	ENSP00000435119.1:n.*205G>A
ENST00000529503.6:c.*334G>A	ENSP00000435024.1:n.*334G>A
ENST00000529638.2:n.984G>A
ENST00000530258.2:n.1292G>A
ENST00000530796.2:n.978G>A
ENST00000531593.2:n.672G>A
ENST00000532758.6:n.1494G>A
ENST00000703441.1:n.988G>A
ENST00000703620.1:c.881G>A	ENSP00000515404.1:p.Arg294Gln
ENST00000703621.1:c.887G>A	ENSP00000515405.1:p.Arg296Gln
ENST00000703622.1:c.887G>A	ENSP00000515406.1:p.Arg296Gln
ENST00000703623.1:n.718G>A
ENST00000703631.1:c.633G>A	ENSP00000515409.1:p.Ala211=
ENST00000703632.1:n.1066G>A
ENST00000703633.1:c.845G>A	ENSP00000515410.1:p.Arg282Gln
ENST00000703634.1:c.633G>A
ENST00000703635.1:c.521G>A	ENSP00000515412.1:p.Arg174Gln
ENST00000703647.1:n.1201G>A
ENST00000703648.1:c.887G>A	ENSP00000515415.1:p.Arg296Gln
ENST00000703649.1:c.887G>A	ENSP00000515416.1:p.Arg296Gln
ENST00000703650.1:n.1190G>A
ENST00000703651.1:n.950G>A
ENST00000703652.1:n.552G>A
ENST00000703653.1:n.788G>A
ENST00000703654.1:n.511G>A
ENST00000703670.1:n.1238G>A
ENST00000703671.1:n.1279G>A
ENST00000703672.1:c.*324G>A	ENSP00000515424.1:n.*324G>A
ENST00000703673.1:n.749G>A
ENST00000703674.1:n.583G>A
ENST00000703675.1:n.1173G>A
ENST00000703676.1:n.672G>A
ENST00000703678.1:n.658G>A
ENST00000703679.1:n.470G>A
ENST00000703680.1:n.751G>A
ENST00000703681.1:n.1245G>A
ENST00000703682.1:c.396G>A
ENST00000703720.1:c.*334G>A	ENSP00000515449.1:n.*334G>A
ENST00000703721.1:n.1072G>A
ENST00000703722.1:n.950G>A
ENST00000703723.1:n.1338G>A
ENST00000703724.1:n.109G>A
ENST00000703725.1:c.887G>A	ENSP00000515450.1:p.Arg296Gln
ENST00000704789.1:c.485G>A	ENSP00000516036.1:p.Arg162Gln
ENST00000704790.1:n.1169G>A
ENST00000704791.1:c.529G>A
ENST00000704793.1:n.314G>A
ENST00000704794.1:c.521G>A	ENSP00000516039.1:p.Arg174Gln
ENST00000704795.1:n.831G>A
ENST00000704796.1:n.870G>A
ENST00000704797.1:n.1220G>A
ENST00000704798.1:n.657G>A
ENST00000704799.1:n.686G>A
ENST00000704806.1:c.707G>A	ENSP00000516043.1:p.Arg236Gln
ENST00000704807.1:c.881G>A	ENSP00000516044.1:p.Arg294Gln
ENST00000704808.1:c.887G>A	ENSP00000516045.1:p.Arg296Gln
ENST00000704809.1:c.845G>A	ENSP00000516046.1:p.Arg282Gln
ENST00000704810.1:n.992G>A
ENST00000704811.1:c.633G>A
ENST00000704812.1:n.636G>A
ENST00000704813.1:n.534G>A
ENST00000355091.9:c.887G>A MANE Select	ENSP00000347206.4:p.Arg296Gln
ENST00000355091.8:c.887G>A	ENSP00000347206.4:p.Arg296Gln
ENST00000361036.10:c.707G>A	ENSP00000354316.6:p.Arg236Gln
ENST00000525087.5:c.671G>A	ENSP00000434485.2:p.Arg224Gln
ENST00000526233.5:n.238G>A
ENST00000527144.5:n.570G>A
ENST00000527653.1:n.359G>A
ENST00000528073.5:c.*205G>A	ENSP00000435119.1:n.*205G>A
ENST00000529638.1:n.214G>A
ENST00000530633.1:c.*334G>A	ENSP00000431233.1:n.*334G>A
NM_003801.3:c.887G>A	NP_003792.1:p.Arg296Gln
NM_003801.4:c.887G>A MANE Select	NP_003792.1:p.Arg296Gln