Canonical Allele Identifier: CA1790971284
Gene: CPA6 HGNC NCBI
ARFGEF1-DT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.67483763C= , CM000670.2:g.67483763C= GRCh38
NC_000008.10:g.68395998C= , CM000670.1:g.68395998C= GRCh37
NC_000008.9:g.68558552C= NCBI36
NG_027682.1:g.267623G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000297770.10:c.838+5G= (CPA6) MANE Select ENSP00000297770.4:n.838+5G=
ENST00000638254.1:c.*434+5G= (CPA6) ENSP00000491129.1:n.*434+5G=
ENST00000297770.8:c.838+5G= (CPA6) ENSP00000297770.4:n.838+5G=
ENST00000479862.6:c.*434+5G= (CPA6) ENSP00000419016.2:n.*434+5G=
ENST00000518549.1:c.843G= (CPA6) ENSP00000431112.1:p.Lys281=
NM_020361.4:c.838+5G= (CPA6) NP_065094.3:n.838+5G=
XM_011517569.1:c.931+5G= (CPA6) XP_011515871.1:n.931+5G=
XM_011517570.1:c.394+5G= (CPA6) XP_011515872.1:n.394+5G=
NR_136224.1:n.694-7202C= (ARFGEF1-DT)
XM_011517570.2:c.394+5G= (CPA6) XP_011515872.1:n.394+5G=
XM_017013646.1:c.394+5G= (CPA6) XP_016869135.1:n.394+5G=
XR_001745565.1:n.1646+5G= (CPA6)
NM_020361.5:c.838+5G= (CPA6) MANE Select NP_065094.3:n.838+5G=