Canonical Allele Identifier: CA854543341

Gene: CPA6 ARFGEF1-DT

Linked Data

• ClinVar Variation Id: 1014419
• ClinVar RCV Id: RCV001313149
• dbSNP Id: rs1227319659
• MyVariant Identifiers: chr8:g.68396096A>G (hg19) ; chr8:g.67483861A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.67483861A>G , CM000670.2:g.67483861A>G	GRCh38
NC_000008.10:g.68396096A>G , CM000670.1:g.68396096A>G	GRCh37
NC_000008.9:g.68558650A>G	NCBI36
NG_027682.1:g.267525T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297770.10:c.748-3T>C (CPA6) MANE Select	ENSP00000297770.4:n.748-3T>C
ENST00000638254.1:c.*344-3T>C (CPA6)	ENSP00000491129.1:n.*344-3T>C
ENST00000297770.8:c.748-3T>C (CPA6)	ENSP00000297770.4:n.748-3T>C
ENST00000479862.6:c.*344-3T>C (CPA6)	ENSP00000419016.2:n.*344-3T>C
ENST00000518549.1:c.748-3T>C (CPA6)	ENSP00000431112.1:n.748-3T>C
NM_020361.4:c.748-3T>C (CPA6)	NP_065094.3:n.748-3T>C
XM_011517569.1:c.841-3T>C (CPA6)	XP_011515871.1:n.841-3T>C
XM_011517570.1:c.304-3T>C (CPA6)	XP_011515872.1:n.304-3T>C
NR_136224.1:n.694-7104A>G (ARFGEF1-DT)
XM_011517570.2:c.304-3T>C (CPA6)	XP_011515872.1:n.304-3T>C
XM_017013646.1:c.304-3T>C (CPA6)	XP_016869135.1:n.304-3T>C
XR_001745565.1:n.1556-3T>C (CPA6)
NM_020361.5:c.748-3T>C (CPA6) MANE Select	NP_065094.3:n.748-3T>C