Canonical Allele Identifier: CA371260840

Gene: CPA6 ARFGEF1-DT

Linked Data

• gnomAD v4: 8-67483801-C-T
• MyVariant Identifiers: chr8:g.68396036C>T (hg19) ; chr8:g.67483801C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.67483801C>T , CM000670.2:g.67483801C>T	GRCh38
NC_000008.10:g.68396036C>T , CM000670.1:g.68396036C>T	GRCh37
NC_000008.9:g.68558590C>T	NCBI36
NG_027682.1:g.267585G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297770.10:c.805G>A (CPA6) MANE Select	ENSP00000297770.4:p.Asp269Asn
ENST00000638254.1:c.*401G>A (CPA6)	ENSP00000491129.1:n.*401G>A
ENST00000297770.8:c.805G>A (CPA6)	ENSP00000297770.4:p.Asp269Asn
ENST00000479862.6:c.*401G>A (CPA6)	ENSP00000419016.2:n.*401G>A
ENST00000518549.1:c.805G>A (CPA6)	ENSP00000431112.1:p.Asp269Asn
NM_020361.4:c.805G>A (CPA6)	NP_065094.3:p.Asp269Asn
XM_011517569.1:c.898G>A (CPA6)	XP_011515871.1:p.Asp300Asn
XM_011517570.1:c.361G>A (CPA6)	XP_011515872.1:p.Asp121Asn
NR_136224.1:n.694-7164C>T (ARFGEF1-DT)
XM_011517570.2:c.361G>A (CPA6)	XP_011515872.1:p.Asp121Asn
XM_017013646.1:c.361G>A (CPA6)	XP_016869135.1:p.Asp121Asn
XR_001745565.1:n.1613G>A (CPA6)
NM_020361.5:c.805G>A (CPA6) MANE Select	NP_065094.3:p.Asp269Asn