Canonical Allele Identifier: CA371260881

Gene: CPA6 ARFGEF1-DT

Linked Data

• gnomAD v4: 8-67483824-G-A
• COSMIC: COSM3413091 ; COSM3413092
• MyVariant Identifiers: chr8:g.68396059G>A (hg19) ; chr8:g.67483824G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.67483824G>A , CM000670.2:g.67483824G>A	GRCh38
NC_000008.10:g.68396059G>A , CM000670.1:g.68396059G>A	GRCh37
NC_000008.9:g.68558613G>A	NCBI36
NG_027682.1:g.267562C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297770.10:c.782C>T (CPA6) MANE Select	ENSP00000297770.4:p.Ser261Leu
ENST00000638254.1:c.*378C>T (CPA6)	ENSP00000491129.1:n.*378C>T
ENST00000297770.8:c.782C>T (CPA6)	ENSP00000297770.4:p.Ser261Leu
ENST00000479862.6:c.*378C>T (CPA6)	ENSP00000419016.2:n.*378C>T
ENST00000518549.1:c.782C>T (CPA6)	ENSP00000431112.1:p.Ser261Leu
NM_020361.4:c.782C>T (CPA6)	NP_065094.3:p.Ser261Leu
XM_011517569.1:c.875C>T (CPA6)	XP_011515871.1:p.Ser292Leu
XM_011517570.1:c.338C>T (CPA6)	XP_011515872.1:p.Ser113Leu
NR_136224.1:n.694-7141G>A (ARFGEF1-DT)
XM_011517570.2:c.338C>T (CPA6)	XP_011515872.1:p.Ser113Leu
XM_017013646.1:c.338C>T (CPA6)	XP_016869135.1:p.Ser113Leu
XR_001745565.1:n.1590C>T (CPA6)
NM_020361.5:c.782C>T (CPA6) MANE Select	NP_065094.3:p.Ser261Leu