Canonical Allele Identifier: CA2687535621
Gene: CPA6 HGNC NCBI
ARFGEF1-DT HGNC NCBI

Linked Data

gnomAD v4: 8-67483893-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.67483893A>G , CM000670.2:g.67483893A>G GRCh38
NC_000008.10:g.68396128A>G , CM000670.1:g.68396128A>G GRCh37
NC_000008.9:g.68558682A>G NCBI36
NG_027682.1:g.267493T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000297770.10:c.748-35T>C (CPA6) MANE Select ENSP00000297770.4:n.748-35T>C
ENST00000638254.1:c.*344-35T>C (CPA6) ENSP00000491129.1:n.*344-35T>C
ENST00000297770.8:c.748-35T>C (CPA6) ENSP00000297770.4:n.748-35T>C
ENST00000479862.6:c.*344-35T>C (CPA6) ENSP00000419016.2:n.*344-35T>C
ENST00000518549.1:c.748-35T>C (CPA6) ENSP00000431112.1:n.748-35T>C
NM_020361.4:c.748-35T>C (CPA6) NP_065094.3:n.748-35T>C
XM_011517569.1:c.841-35T>C (CPA6) XP_011515871.1:n.841-35T>C
XM_011517570.1:c.304-35T>C (CPA6) XP_011515872.1:n.304-35T>C
NR_136224.1:n.694-7072A>G (ARFGEF1-DT)
XM_011517570.2:c.304-35T>C (CPA6) XP_011515872.1:n.304-35T>C
XM_017013646.1:c.304-35T>C (CPA6) XP_016869135.1:n.304-35T>C
XR_001745565.1:n.1556-35T>C (CPA6)
NM_020361.5:c.748-35T>C (CPA6) MANE Select NP_065094.3:n.748-35T>C