Canonical Allele Identifier: CA461344256
Gene: CPA6 HGNC NCBI
ARFGEF1-DT HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.68396031G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.67483796G>T , CM000670.2:g.67483796G>T GRCh38
NC_000008.10:g.68396031G>T , CM000670.1:g.68396031G>T GRCh37
NC_000008.9:g.68558585G>T NCBI36
NG_027682.1:g.267590C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297770.10:c.810C>A (CPA6) MANE Select ENSP00000297770.4:p.Ala270=
ENST00000638254.1:c.*406C>A (CPA6) ENSP00000491129.1:n.*406C>A
ENST00000297770.8:c.810C>A (CPA6) ENSP00000297770.4:p.Ala270=
ENST00000479862.6:c.*406C>A (CPA6) ENSP00000419016.2:n.*406C>A
ENST00000518549.1:c.810C>A (CPA6) ENSP00000431112.1:p.Ala270=
NM_020361.4:c.810C>A (CPA6) NP_065094.3:p.Ala270=
XM_011517569.1:c.903C>A (CPA6) XP_011515871.1:p.Ala301=
XM_011517570.1:c.366C>A (CPA6) XP_011515872.1:p.Ala122=
NR_136224.1:n.694-7169G>T (ARFGEF1-DT)
XM_011517570.2:c.366C>A (CPA6) XP_011515872.1:p.Ala122=
XM_017013646.1:c.366C>A (CPA6) XP_016869135.1:p.Ala122=
XR_001745565.1:n.1618C>A (CPA6)
NM_020361.5:c.810C>A (CPA6) MANE Select NP_065094.3:p.Ala270=