Canonical Allele Identifier: CA371260157

Gene: CPA6 ARFGEF1-DT

Linked Data

• ClinVar Variation Id: 437415
• ClinVar RCV Id: RCV000499409
• dbSNP Id: rs1554662194
• MyVariant Identifiers: chr8:g.68346320A>G (hg19) ; chr8:g.67434085A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.67434085A>G , CM000670.2:g.67434085A>G	GRCh38
NC_000008.10:g.68346320A>G , CM000670.1:g.68346320A>G	GRCh37
NC_000008.9:g.68508874A>G	NCBI36
NG_027682.1:g.317301T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297770.10:c.994T>C (CPA6) MANE Select	ENSP00000297770.4:p.Tyr332His
ENST00000638254.1:c.*590T>C (CPA6)	ENSP00000491129.1:n.*590T>C
ENST00000639116.1:n.514T>C (CPA6)
ENST00000297770.8:c.994T>C (CPA6)	ENSP00000297770.4:p.Tyr332His
ENST00000479862.6:c.*435-11394T>C (CPA6)	ENSP00000419016.2:n.*435-11394T>C
NM_020361.4:c.994T>C (CPA6)	NP_065094.3:p.Tyr332His
XM_011517569.1:c.1087T>C (CPA6)	XP_011515871.1:p.Tyr363His
XM_011517570.1:c.550T>C (CPA6)	XP_011515872.1:p.Tyr184His
NR_136224.1:n.470-8125A>G (ARFGEF1-DT)
XM_011517570.2:c.550T>C (CPA6)	XP_011515872.1:p.Tyr184His
XM_017013646.1:c.550T>C (CPA6)	XP_016869135.1:p.Tyr184His
XR_001745565.1:n.1647-5954T>C (CPA6)
NM_020361.5:c.994T>C (CPA6) MANE Select	NP_065094.3:p.Tyr332His