Canonical Allele Identifier: CA461344297
Gene: CPA6 HGNC NCBI
ARFGEF1-DT HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.68396043A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.67483808A>G , CM000670.2:g.67483808A>G GRCh38
NC_000008.10:g.68396043A>G , CM000670.1:g.68396043A>G GRCh37
NC_000008.9:g.68558597A>G NCBI36
NG_027682.1:g.267578T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000297770.10:c.798T>C (CPA6) MANE Select ENSP00000297770.4:p.Arg266=
ENST00000638254.1:c.*394T>C (CPA6) ENSP00000491129.1:n.*394T>C
ENST00000297770.8:c.798T>C (CPA6) ENSP00000297770.4:p.Arg266=
ENST00000479862.6:c.*394T>C (CPA6) ENSP00000419016.2:n.*394T>C
ENST00000518549.1:c.798T>C (CPA6) ENSP00000431112.1:p.Arg266=
NM_020361.4:c.798T>C (CPA6) NP_065094.3:p.Arg266=
XM_011517569.1:c.891T>C (CPA6) XP_011515871.1:p.Arg297=
XM_011517570.1:c.354T>C (CPA6) XP_011515872.1:p.Arg118=
NR_136224.1:n.694-7157A>G (ARFGEF1-DT)
XM_011517570.2:c.354T>C (CPA6) XP_011515872.1:p.Arg118=
XM_017013646.1:c.354T>C (CPA6) XP_016869135.1:p.Arg118=
XR_001745565.1:n.1606T>C (CPA6)
NM_020361.5:c.798T>C (CPA6) MANE Select NP_065094.3:p.Arg266=