Canonical Allele Identifier: CA1790971394
Gene: CPA6 HGNC NCBI
ARFGEF1-DT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.67483830C= , CM000670.2:g.67483830C= GRCh38
NC_000008.10:g.68396065C= , CM000670.1:g.68396065C= GRCh37
NC_000008.9:g.68558619C= NCBI36
NG_027682.1:g.267556G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000297770.10:c.776G= (CPA6) MANE Select ENSP00000297770.4:p.Arg259=
ENST00000638254.1:c.*372G= (CPA6) ENSP00000491129.1:n.*372G=
ENST00000297770.8:c.776G= (CPA6) ENSP00000297770.4:p.Arg259=
ENST00000479862.6:c.*372G= (CPA6) ENSP00000419016.2:n.*372G=
ENST00000518549.1:c.776G= (CPA6) ENSP00000431112.1:p.Arg259=
NM_020361.4:c.776G= (CPA6) NP_065094.3:p.Arg259=
XM_011517569.1:c.869G= (CPA6) XP_011515871.1:p.Arg290=
XM_011517570.1:c.332G= (CPA6) XP_011515872.1:p.Arg111=
NR_136224.1:n.694-7135C= (ARFGEF1-DT)
XM_011517570.2:c.332G= (CPA6) XP_011515872.1:p.Arg111=
XM_017013646.1:c.332G= (CPA6) XP_016869135.1:p.Arg111=
XR_001745565.1:n.1584G= (CPA6)
NM_020361.5:c.776G= (CPA6) MANE Select NP_065094.3:p.Arg259=