Canonical Allele Identifier: CA129467
Gene: CPA6 HGNC NCBI
ARFGEF1-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 30791
dbSNP Id: rs114402678
gnomAD v2: 8-68396032-G-A
gnomAD v3: 8-67483797-G-A
gnomAD v4: 8-67483797-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.67483797G>A , CM000670.2:g.67483797G>A GRCh38
NC_000008.10:g.68396032G>A , CM000670.1:g.68396032G>A GRCh37
NC_000008.9:g.68558586G>A NCBI36
NG_027682.1:g.267589C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000297770.10:c.809C>T (CPA6) MANE Select ENSP00000297770.4:p.Ala270Val
ENST00000638254.1:c.*405C>T (CPA6) ENSP00000491129.1:n.*405C>T
ENST00000297770.8:c.809C>T (CPA6) ENSP00000297770.4:p.Ala270Val
ENST00000479862.6:c.*405C>T (CPA6) ENSP00000419016.2:n.*405C>T
ENST00000518549.1:c.809C>T (CPA6) ENSP00000431112.1:p.Ala270Val
NM_020361.4:c.809C>T (CPA6) NP_065094.3:p.Ala270Val
XM_011517569.1:c.902C>T (CPA6) XP_011515871.1:p.Ala301Val
XM_011517570.1:c.365C>T (CPA6) XP_011515872.1:p.Ala122Val
NR_136224.1:n.694-7168G>A (ARFGEF1-DT)
XM_011517570.2:c.365C>T (CPA6) XP_011515872.1:p.Ala122Val
XM_017013646.1:c.365C>T (CPA6) XP_016869135.1:p.Ala122Val
XR_001745565.1:n.1617C>T (CPA6)
NM_020361.5:c.809C>T (CPA6) MANE Select NP_065094.3:p.Ala270Val