Canonical Allele Identifier: CA4772774

Gene: CPA6 ARFGEF1-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.67434147C>T , CM000670.2:g.67434147C>T	GRCh38
NC_000008.10:g.68346382C>T , CM000670.1:g.68346382C>T	GRCh37
NC_000008.9:g.68508936C>T	NCBI36
NG_027682.1:g.317239G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297770.10:c.932G>A (CPA6) MANE Select	ENSP00000297770.4:p.Arg311Gln
ENST00000638254.1:c.*528G>A (CPA6)	ENSP00000491129.1:n.*528G>A
ENST00000639116.1:n.452G>A (CPA6)
ENST00000297770.8:c.932G>A (CPA6)	ENSP00000297770.4:p.Arg311Gln
ENST00000479862.6:c.*435-11456G>A (CPA6)	ENSP00000419016.2:n.*435-11456G>A
NM_020361.4:c.932G>A (CPA6)	NP_065094.3:p.Arg311Gln
XM_011517569.1:c.1025G>A (CPA6)	XP_011515871.1:p.Arg342Gln
XM_011517570.1:c.488G>A (CPA6)	XP_011515872.1:p.Arg163Gln
NR_136224.1:n.470-8063C>T (ARFGEF1-DT)
XM_011517570.2:c.488G>A (CPA6)	XP_011515872.1:p.Arg163Gln
XM_017013646.1:c.488G>A (CPA6)	XP_016869135.1:p.Arg163Gln
XR_001745565.1:n.1647-6016G>A (CPA6)
NM_020361.5:c.932G>A (CPA6) MANE Select	NP_065094.3:p.Arg311Gln