Canonical Allele Identifier: CA4772651

Gene: CPA6 ARFGEF1-DT

Linked Data

• ClinVar Variation Id: 472761
• ClinVar RCV Id: RCV000526086 ; RCV001160187 ; RCV002483479
• dbSNP Id: rs72654981
• ExAC: 8:68334782 G / A
• gnomAD v2: 8-68334782-G-A
• gnomAD v3: 8-67422547-G-A
• gnomAD v4: 8-67422547-G-A
• MyVariant Identifiers: chr8:g.68334782G>A (hg19) ; chr8:g.67422547G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.67422547G>A , CM000670.2:g.67422547G>A	GRCh38
NC_000008.10:g.68334782G>A , CM000670.1:g.68334782G>A	GRCh37
NC_000008.9:g.68497336G>A	NCBI36
NG_027682.1:g.328839C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297770.10:c.1271C>T (CPA6) MANE Select	ENSP00000297770.4:p.Ala424Val
ENST00000638254.1:c.*867C>T (CPA6)	ENSP00000491129.1:n.*867C>T
ENST00000639116.1:n.791C>T (CPA6)
ENST00000639508.1:n.244C>T (CPA6)
ENST00000297770.8:c.1271C>T (CPA6)	ENSP00000297770.4:p.Ala424Val
ENST00000479862.6:c.*579C>T (CPA6)	ENSP00000419016.2:n.*579C>T
NM_020361.4:c.1271C>T (CPA6)	NP_065094.3:p.Ala424Val
XM_011517569.1:c.1364C>T (CPA6)	XP_011515871.1:p.Ala455Val
XM_011517570.1:c.827C>T (CPA6)	XP_011515872.1:p.Ala276Val
NR_136224.1:n.470-19663G>A (ARFGEF1-DT)
XM_011517570.2:c.827C>T (CPA6)	XP_011515872.1:p.Ala276Val
XM_017013646.1:c.827C>T (CPA6)	XP_016869135.1:p.Ala276Val
NM_020361.5:c.1271C>T (CPA6) MANE Select	NP_065094.3:p.Ala424Val