Canonical Allele Identifier: CA371260795

Gene: CPA6 ARFGEF1-DT

Linked Data

• MyVariant Identifiers: chr8:g.68396018T>G (hg19) ; chr8:g.67483783T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.67483783T>G , CM000670.2:g.67483783T>G	GRCh38
NC_000008.10:g.68396018T>G , CM000670.1:g.68396018T>G	GRCh37
NC_000008.9:g.68558572T>G	NCBI36
NG_027682.1:g.267603A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297770.10:c.823A>C (CPA6) MANE Select	ENSP00000297770.4:p.Lys275Gln
ENST00000638254.1:c.*419A>C (CPA6)	ENSP00000491129.1:n.*419A>C
ENST00000297770.8:c.823A>C (CPA6)	ENSP00000297770.4:p.Lys275Gln
ENST00000479862.6:c.*419A>C (CPA6)	ENSP00000419016.2:n.*419A>C
ENST00000518549.1:c.823A>C (CPA6)	ENSP00000431112.1:p.Lys275Gln
NM_020361.4:c.823A>C (CPA6)	NP_065094.3:p.Lys275Gln
XM_011517569.1:c.916A>C (CPA6)	XP_011515871.1:p.Lys306Gln
XM_011517570.1:c.379A>C (CPA6)	XP_011515872.1:p.Lys127Gln
NR_136224.1:n.694-7182T>G (ARFGEF1-DT)
XM_011517570.2:c.379A>C (CPA6)	XP_011515872.1:p.Lys127Gln
XM_017013646.1:c.379A>C (CPA6)	XP_016869135.1:p.Lys127Gln
XR_001745565.1:n.1631A>C (CPA6)
NM_020361.5:c.823A>C (CPA6) MANE Select	NP_065094.3:p.Lys275Gln