Canonical Allele Identifier: CA461344378
Gene: CPA6 HGNC NCBI
ARFGEF1-DT HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.68396058T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.67483823T>A , CM000670.2:g.67483823T>A GRCh38
NC_000008.10:g.68396058T>A , CM000670.1:g.68396058T>A GRCh37
NC_000008.9:g.68558612T>A NCBI36
NG_027682.1:g.267563A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000297770.10:c.783A>T (CPA6) MANE Select ENSP00000297770.4:p.Ser261=
ENST00000638254.1:c.*379A>T (CPA6) ENSP00000491129.1:n.*379A>T
ENST00000297770.8:c.783A>T (CPA6) ENSP00000297770.4:p.Ser261=
ENST00000479862.6:c.*379A>T (CPA6) ENSP00000419016.2:n.*379A>T
ENST00000518549.1:c.783A>T (CPA6) ENSP00000431112.1:p.Ser261=
NM_020361.4:c.783A>T (CPA6) NP_065094.3:p.Ser261=
XM_011517569.1:c.876A>T (CPA6) XP_011515871.1:p.Ser292=
XM_011517570.1:c.339A>T (CPA6) XP_011515872.1:p.Ser113=
NR_136224.1:n.694-7142T>A (ARFGEF1-DT)
XM_011517570.2:c.339A>T (CPA6) XP_011515872.1:p.Ser113=
XM_017013646.1:c.339A>T (CPA6) XP_016869135.1:p.Ser113=
XR_001745565.1:n.1591A>T (CPA6)
NM_020361.5:c.783A>T (CPA6) MANE Select NP_065094.3:p.Ser261=