Canonical Allele Identifier: CA372498462

Gene: GPAA1

Linked Data

• COSMIC: COSM1662023
• MyVariant Identifiers: chr8:g.145139392A>T (hg19) ; chr8:g.144084489A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144084489A>T , CM000670.2:g.144084489A>T	GRCh38
NC_000008.10:g.145139392A>T , CM000670.1:g.145139392A>T	GRCh37
NC_000008.9:g.145211380A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000361036.11:c.710A>T	ENSP00000354316.6:p.Gln237Leu
ENST00000524418.6:c.848A>T	ENSP00000434544.2:p.Gln283Leu
ENST00000525087.6:c.674A>T	ENSP00000434485.3:p.Gln225Leu
ENST00000525308.2:n.1285A>T
ENST00000526341.6:c.*432A>T	ENSP00000515386.1:n.*432A>T
ENST00000527144.6:c.738A>T	ENSP00000515403.1:p.Ala246=
ENST00000528073.6:c.*208A>T	ENSP00000435119.1:n.*208A>T
ENST00000529503.6:c.*337A>T	ENSP00000435024.1:n.*337A>T
ENST00000529638.2:n.987A>T
ENST00000530258.2:n.1295A>T
ENST00000530796.2:n.981A>T
ENST00000531593.2:n.675A>T
ENST00000532758.6:n.1497A>T
ENST00000703441.1:n.991A>T
ENST00000703620.1:c.884A>T	ENSP00000515404.1:p.Gln295Leu
ENST00000703621.1:c.890A>T	ENSP00000515405.1:p.Gln297Leu
ENST00000703622.1:c.890A>T	ENSP00000515406.1:p.Gln297Leu
ENST00000703623.1:n.721A>T
ENST00000703631.1:c.636A>T	ENSP00000515409.1:p.Ala212=
ENST00000703632.1:n.1069A>T
ENST00000703633.1:c.848A>T	ENSP00000515410.1:p.Gln283Leu
ENST00000703634.1:c.636A>T
ENST00000703635.1:c.524A>T	ENSP00000515412.1:p.Gln175Leu
ENST00000703647.1:n.1204A>T
ENST00000703648.1:c.890A>T	ENSP00000515415.1:p.Gln297Leu
ENST00000703649.1:c.890A>T	ENSP00000515416.1:p.Gln297Leu
ENST00000703650.1:n.1193A>T
ENST00000703651.1:n.953A>T
ENST00000703652.1:n.555A>T
ENST00000703653.1:n.791A>T
ENST00000703654.1:n.514A>T
ENST00000703670.1:n.1241A>T
ENST00000703671.1:n.1282A>T
ENST00000703672.1:c.*327A>T	ENSP00000515424.1:n.*327A>T
ENST00000703673.1:n.752A>T
ENST00000703674.1:n.586A>T
ENST00000703675.1:n.1176A>T
ENST00000703676.1:n.675A>T
ENST00000703678.1:n.661A>T
ENST00000703679.1:n.473A>T
ENST00000703680.1:n.754A>T
ENST00000703681.1:n.1248A>T
ENST00000703682.1:c.399A>T
ENST00000703720.1:c.*337A>T	ENSP00000515449.1:n.*337A>T
ENST00000703721.1:n.1075A>T
ENST00000703722.1:n.953A>T
ENST00000703723.1:n.1341A>T
ENST00000703724.1:n.112A>T
ENST00000703725.1:c.890A>T	ENSP00000515450.1:p.Gln297Leu
ENST00000704789.1:c.488A>T	ENSP00000516036.1:p.Gln163Leu
ENST00000704790.1:n.1172A>T
ENST00000704791.1:c.532A>T
ENST00000704793.1:n.317A>T
ENST00000704794.1:c.524A>T	ENSP00000516039.1:p.Gln175Leu
ENST00000704795.1:n.834A>T
ENST00000704796.1:n.873A>T
ENST00000704797.1:n.1223A>T
ENST00000704798.1:n.660A>T
ENST00000704799.1:n.689A>T
ENST00000704806.1:c.710A>T	ENSP00000516043.1:p.Gln237Leu
ENST00000704807.1:c.884A>T	ENSP00000516044.1:p.Gln295Leu
ENST00000704808.1:c.890A>T	ENSP00000516045.1:p.Gln297Leu
ENST00000704809.1:c.848A>T	ENSP00000516046.1:p.Gln283Leu
ENST00000704810.1:n.995A>T
ENST00000704811.1:c.636A>T
ENST00000704812.1:n.639A>T
ENST00000704813.1:n.537A>T
ENST00000355091.9:c.890A>T MANE Select	ENSP00000347206.4:p.Gln297Leu
ENST00000355091.8:c.890A>T	ENSP00000347206.4:p.Gln297Leu
ENST00000361036.10:c.710A>T	ENSP00000354316.6:p.Gln237Leu
ENST00000525087.5:c.674A>T	ENSP00000434485.2:p.Gln225Leu
ENST00000526233.5:n.241A>T
ENST00000527144.5:n.573A>T
ENST00000527653.1:n.362A>T
ENST00000528073.5:c.*208A>T	ENSP00000435119.1:n.*208A>T
ENST00000529638.1:n.217A>T
ENST00000530633.1:c.*337A>T	ENSP00000431233.1:n.*337A>T
NM_003801.3:c.890A>T	NP_003792.1:p.Gln297Leu
NM_003801.4:c.890A>T MANE Select	NP_003792.1:p.Gln297Leu