Canonical Allele Identifier: CA1790971430
Gene: CPA6 HGNC NCBI
ARFGEF1-DT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.67483847C= , CM000670.2:g.67483847C= GRCh38
NC_000008.10:g.68396082C= , CM000670.1:g.68396082C= GRCh37
NC_000008.9:g.68558636C= NCBI36
NG_027682.1:g.267539G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000297770.10:c.759G= (CPA6) MANE Select ENSP00000297770.4:p.Trp253=
ENST00000638254.1:c.*355G= (CPA6) ENSP00000491129.1:n.*355G=
ENST00000297770.8:c.759G= (CPA6) ENSP00000297770.4:p.Trp253=
ENST00000479862.6:c.*355G= (CPA6) ENSP00000419016.2:n.*355G=
ENST00000518549.1:c.759G= (CPA6) ENSP00000431112.1:p.Trp253=
NM_020361.4:c.759G= (CPA6) NP_065094.3:p.Trp253=
XM_011517569.1:c.852G= (CPA6) XP_011515871.1:p.Trp284=
XM_011517570.1:c.315G= (CPA6) XP_011515872.1:p.Trp105=
NR_136224.1:n.694-7118C= (ARFGEF1-DT)
XM_011517570.2:c.315G= (CPA6) XP_011515872.1:p.Trp105=
XM_017013646.1:c.315G= (CPA6) XP_016869135.1:p.Trp105=
XR_001745565.1:n.1567G= (CPA6)
NM_020361.5:c.759G= (CPA6) MANE Select NP_065094.3:p.Trp253=