Canonical Allele Identifier: CA4772836
Gene: CPA6 HGNC NCBI
ARFGEF1-DT HGNC NCBI

Linked Data

dbSNP Id: rs768754601
gnomAD v2: 8-68396012-T-C
gnomAD v4: 8-67483777-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.67483777T>C , CM000670.2:g.67483777T>C GRCh38
NC_000008.10:g.68396012T>C , CM000670.1:g.68396012T>C GRCh37
NC_000008.9:g.68558566T>C NCBI36
NG_027682.1:g.267609A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000297770.10:c.829A>G (CPA6) MANE Select ENSP00000297770.4:p.Lys277Glu
ENST00000638254.1:c.*425A>G (CPA6) ENSP00000491129.1:n.*425A>G
ENST00000297770.8:c.829A>G (CPA6) ENSP00000297770.4:p.Lys277Glu
ENST00000479862.6:c.*425A>G (CPA6) ENSP00000419016.2:n.*425A>G
ENST00000518549.1:c.829A>G (CPA6) ENSP00000431112.1:p.Lys277Glu
NM_020361.4:c.829A>G (CPA6) NP_065094.3:p.Lys277Glu
XM_011517569.1:c.922A>G (CPA6) XP_011515871.1:p.Lys308Glu
XM_011517570.1:c.385A>G (CPA6) XP_011515872.1:p.Lys129Glu
NR_136224.1:n.694-7188T>C (ARFGEF1-DT)
XM_011517570.2:c.385A>G (CPA6) XP_011515872.1:p.Lys129Glu
XM_017013646.1:c.385A>G (CPA6) XP_016869135.1:p.Lys129Glu
XR_001745565.1:n.1637A>G (CPA6)
NM_020361.5:c.829A>G (CPA6) MANE Select NP_065094.3:p.Lys277Glu