Canonical Allele Identifier: CA371260282

Gene: CPA6 ARFGEF1-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.67434140G>C , CM000670.2:g.67434140G>C	GRCh38
NC_000008.10:g.68346375G>C , CM000670.1:g.68346375G>C	GRCh37
NC_000008.9:g.68508929G>C	NCBI36
NG_027682.1:g.317246C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_020361.5:c.939C>G (CPA6) MANE Select	NP_065094.3:p.His313Gln
ENST00000297770.10:c.939C>G (CPA6) MANE Select	ENSP00000297770.4:p.His313Gln
NM_020361.4:c.939C>G (CPA6)	NP_065094.3:p.His313Gln
NR_136224.1:n.470-8070G>C (ARFGEF1-DT)
ENST00000297770.8:c.939C>G (CPA6)	ENSP00000297770.4:p.His313Gln
ENST00000479862.6:c.*435-11449C>G (CPA6)	ENSP00000419016.2:n.*435-11449C>G
ENST00000638254.1:c.*535C>G (CPA6)	ENSP00000491129.1:n.*535C>G
ENST00000639116.1:n.459C>G (CPA6)
XM_011517569.1:c.1032C>G (CPA6)	XP_011515871.1:p.His344Gln
XM_011517570.1:c.495C>G (CPA6)	XP_011515872.1:p.His165Gln
XM_011517570.2:c.495C>G (CPA6)	XP_011515872.1:p.His165Gln
XM_017013646.1:c.495C>G (CPA6)	XP_016869135.1:p.His165Gln
XR_001745565.1:n.1647-6009C>G (CPA6)