Canonical Allele Identifier: CA371260732

Gene: CPA6 ARFGEF1-DT

Linked Data

• dbSNP Id: rs1252822662
• gnomAD v2: 8-68395993-C-G
• gnomAD v3: 8-67483758-C-G
• gnomAD v4: 8-67483758-C-G
• MyVariant Identifiers: chr8:g.68395993C>G (hg19) ; chr8:g.67483758C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.67483758C>G , CM000670.2:g.67483758C>G	GRCh38
NC_000008.10:g.68395993C>G , CM000670.1:g.68395993C>G	GRCh37
NC_000008.9:g.68558547C>G	NCBI36
NG_027682.1:g.267628G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297770.10:c.838+10G>C (CPA6) MANE Select	ENSP00000297770.4:n.838+10G>C
ENST00000638254.1:c.*434+10G>C (CPA6)	ENSP00000491129.1:n.*434+10G>C
ENST00000297770.8:c.838+10G>C (CPA6)	ENSP00000297770.4:n.838+10G>C
ENST00000479862.6:c.*434+10G>C (CPA6)	ENSP00000419016.2:n.*434+10G>C
ENST00000518549.1:c.848G>C (CPA6)	ENSP00000431112.1:p.Gly283Ala
NM_020361.4:c.838+10G>C (CPA6)	NP_065094.3:n.838+10G>C
XM_011517569.1:c.931+10G>C (CPA6)	XP_011515871.1:n.931+10G>C
XM_011517570.1:c.394+10G>C (CPA6)	XP_011515872.1:n.394+10G>C
NR_136224.1:n.694-7207C>G (ARFGEF1-DT)
XM_011517570.2:c.394+10G>C (CPA6)	XP_011515872.1:n.394+10G>C
XM_017013646.1:c.394+10G>C (CPA6)	XP_016869135.1:n.394+10G>C
XR_001745565.1:n.1646+10G>C (CPA6)
NM_020361.5:c.838+10G>C (CPA6) MANE Select	NP_065094.3:n.838+10G>C