Canonical Allele Identifier: CA231062

Gene: CPA6 ARFGEF1-DT

Linked Data

• ClinVar Variation Id: 128848
• ClinVar RCV Id: RCV000116828
• dbSNP Id: rs587780322
• MyVariant Identifiers: chr8:g.68346386G>A (hg19) ; chr8:g.67434151G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.67434151G>A , CM000670.2:g.67434151G>A	GRCh38
NC_000008.10:g.68346386G>A , CM000670.1:g.68346386G>A	GRCh37
NC_000008.9:g.68508940G>A	NCBI36
NG_027682.1:g.317235C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297770.10:c.928C>T (CPA6) MANE Select	ENSP00000297770.4:p.Leu310Phe
ENST00000638254.1:c.*524C>T (CPA6)	ENSP00000491129.1:n.*524C>T
ENST00000639116.1:n.448C>T (CPA6)
ENST00000297770.8:c.928C>T (CPA6)	ENSP00000297770.4:p.Leu310Phe
ENST00000479862.6:c.*435-11460C>T (CPA6)	ENSP00000419016.2:n.*435-11460C>T
NM_020361.4:c.928C>T (CPA6)	NP_065094.3:p.Leu310Phe
XM_011517569.1:c.1021C>T (CPA6)	XP_011515871.1:p.Leu341Phe
XM_011517570.1:c.484C>T (CPA6)	XP_011515872.1:p.Leu162Phe
NR_136224.1:n.470-8059G>A (ARFGEF1-DT)
XM_011517570.2:c.484C>T (CPA6)	XP_011515872.1:p.Leu162Phe
XM_017013646.1:c.484C>T (CPA6)	XP_016869135.1:p.Leu162Phe
XR_001745565.1:n.1647-6020C>T (CPA6)
NM_020361.5:c.928C>T (CPA6) MANE Select	NP_065094.3:p.Leu310Phe