Canonical Allele Identifier: CA371260681
Gene: CPA6 HGNC NCBI
ARFGEF1-DT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.67483735T>G , CM000670.2:g.67483735T>G GRCh38
NC_000008.10:g.68395970T>G , CM000670.1:g.68395970T>G GRCh37
NC_000008.9:g.68558524T>G NCBI36
NG_027682.1:g.267651A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000297770.10:c.838+33A>C (CPA6) MANE Select ENSP00000297770.4:n.838+33A>C
ENST00000638254.1:c.*434+33A>C (CPA6) ENSP00000491129.1:n.*434+33A>C
ENST00000297770.8:c.838+33A>C (CPA6) ENSP00000297770.4:n.838+33A>C
ENST00000479862.6:c.*434+33A>C (CPA6) ENSP00000419016.2:n.*434+33A>C
ENST00000518549.1:c.871A>C (CPA6) ENSP00000431112.1:p.Lys291Gln
NM_020361.4:c.838+33A>C (CPA6) NP_065094.3:n.838+33A>C
XM_011517569.1:c.931+33A>C (CPA6) XP_011515871.1:n.931+33A>C
XM_011517570.1:c.394+33A>C (CPA6) XP_011515872.1:n.394+33A>C
NR_136224.1:n.694-7230T>G (ARFGEF1-DT)
XM_011517570.2:c.394+33A>C (CPA6) XP_011515872.1:n.394+33A>C
XM_017013646.1:c.394+33A>C (CPA6) XP_016869135.1:n.394+33A>C
XR_001745565.1:n.1646+33A>C (CPA6)
NM_020361.5:c.838+33A>C (CPA6) MANE Select NP_065094.3:n.838+33A>C