Canonical Allele Identifier: CA371260944

Gene: CPA6 ARFGEF1-DT

Linked Data

• MyVariant Identifiers: chr8:g.68396086A>T (hg19) ; chr8:g.67483851A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.67483851A>T , CM000670.2:g.67483851A>T	GRCh38
NC_000008.10:g.68396086A>T , CM000670.1:g.68396086A>T	GRCh37
NC_000008.9:g.68558640A>T	NCBI36
NG_027682.1:g.267535T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297770.10:c.755T>A (CPA6) MANE Select	ENSP00000297770.4:p.Phe252Tyr
ENST00000638254.1:c.*351T>A (CPA6)	ENSP00000491129.1:n.*351T>A
ENST00000297770.8:c.755T>A (CPA6)	ENSP00000297770.4:p.Phe252Tyr
ENST00000479862.6:c.*351T>A (CPA6)	ENSP00000419016.2:n.*351T>A
ENST00000518549.1:c.755T>A (CPA6)	ENSP00000431112.1:p.Phe252Tyr
NM_020361.4:c.755T>A (CPA6)	NP_065094.3:p.Phe252Tyr
XM_011517569.1:c.848T>A (CPA6)	XP_011515871.1:p.Phe283Tyr
XM_011517570.1:c.311T>A (CPA6)	XP_011515872.1:p.Phe104Tyr
NR_136224.1:n.694-7114A>T (ARFGEF1-DT)
XM_011517570.2:c.311T>A (CPA6)	XP_011515872.1:p.Phe104Tyr
XM_017013646.1:c.311T>A (CPA6)	XP_016869135.1:p.Phe104Tyr
XR_001745565.1:n.1563T>A (CPA6)
NM_020361.5:c.755T>A (CPA6) MANE Select	NP_065094.3:p.Phe252Tyr