Canonical Allele Identifier: CA371260911

Gene: CPA6 ARFGEF1-DT

Linked Data

• MyVariant Identifiers: chr8:g.68396072T>A (hg19) ; chr8:g.67483837T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.67483837T>A , CM000670.2:g.67483837T>A	GRCh38
NC_000008.10:g.68396072T>A , CM000670.1:g.68396072T>A	GRCh37
NC_000008.9:g.68558626T>A	NCBI36
NG_027682.1:g.267549A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297770.10:c.769A>T (CPA6) MANE Select	ENSP00000297770.4:p.Arg257Trp
ENST00000638254.1:c.*365A>T (CPA6)	ENSP00000491129.1:n.*365A>T
ENST00000297770.8:c.769A>T (CPA6)	ENSP00000297770.4:p.Arg257Trp
ENST00000479862.6:c.*365A>T (CPA6)	ENSP00000419016.2:n.*365A>T
ENST00000518549.1:c.769A>T (CPA6)	ENSP00000431112.1:p.Arg257Trp
NM_020361.4:c.769A>T (CPA6)	NP_065094.3:p.Arg257Trp
XM_011517569.1:c.862A>T (CPA6)	XP_011515871.1:p.Arg288Trp
XM_011517570.1:c.325A>T (CPA6)	XP_011515872.1:p.Arg109Trp
NR_136224.1:n.694-7128T>A (ARFGEF1-DT)
XM_011517570.2:c.325A>T (CPA6)	XP_011515872.1:p.Arg109Trp
XM_017013646.1:c.325A>T (CPA6)	XP_016869135.1:p.Arg109Trp
XR_001745565.1:n.1577A>T (CPA6)
NM_020361.5:c.769A>T (CPA6) MANE Select	NP_065094.3:p.Arg257Trp