Canonical Allele Identifier: CA461344437
Gene: CPA6 HGNC NCBI
ARFGEF1-DT HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.68396066T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.67483831T>G , CM000670.2:g.67483831T>G GRCh38
NC_000008.10:g.68396066T>G , CM000670.1:g.68396066T>G GRCh37
NC_000008.9:g.68558620T>G NCBI36
NG_027682.1:g.267555A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000297770.10:c.775A>C (CPA6) MANE Select ENSP00000297770.4:p.Arg259=
ENST00000638254.1:c.*371A>C (CPA6) ENSP00000491129.1:n.*371A>C
ENST00000297770.8:c.775A>C (CPA6) ENSP00000297770.4:p.Arg259=
ENST00000479862.6:c.*371A>C (CPA6) ENSP00000419016.2:n.*371A>C
ENST00000518549.1:c.775A>C (CPA6) ENSP00000431112.1:p.Arg259=
NM_020361.4:c.775A>C (CPA6) NP_065094.3:p.Arg259=
XM_011517569.1:c.868A>C (CPA6) XP_011515871.1:p.Arg290=
XM_011517570.1:c.331A>C (CPA6) XP_011515872.1:p.Arg111=
NR_136224.1:n.694-7134T>G (ARFGEF1-DT)
XM_011517570.2:c.331A>C (CPA6) XP_011515872.1:p.Arg111=
XM_017013646.1:c.331A>C (CPA6) XP_016869135.1:p.Arg111=
XR_001745565.1:n.1583A>C (CPA6)
NM_020361.5:c.775A>C (CPA6) MANE Select NP_065094.3:p.Arg259=