Canonical Allele Identifier: CA371260914

Gene: CPA6 ARFGEF1-DT

Linked Data

• MyVariant Identifiers: chr8:g.68396074G>C (hg19) ; chr8:g.67483839G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.67483839G>C , CM000670.2:g.67483839G>C	GRCh38
NC_000008.10:g.68396074G>C , CM000670.1:g.68396074G>C	GRCh37
NC_000008.9:g.68558628G>C	NCBI36
NG_027682.1:g.267547C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297770.10:c.767C>G (CPA6) MANE Select	ENSP00000297770.4:p.Thr256Arg
ENST00000638254.1:c.*363C>G (CPA6)	ENSP00000491129.1:n.*363C>G
ENST00000297770.8:c.767C>G (CPA6)	ENSP00000297770.4:p.Thr256Arg
ENST00000479862.6:c.*363C>G (CPA6)	ENSP00000419016.2:n.*363C>G
ENST00000518549.1:c.767C>G (CPA6)	ENSP00000431112.1:p.Thr256Arg
NM_020361.4:c.767C>G (CPA6)	NP_065094.3:p.Thr256Arg
XM_011517569.1:c.860C>G (CPA6)	XP_011515871.1:p.Thr287Arg
XM_011517570.1:c.323C>G (CPA6)	XP_011515872.1:p.Thr108Arg
NR_136224.1:n.694-7126G>C (ARFGEF1-DT)
XM_011517570.2:c.323C>G (CPA6)	XP_011515872.1:p.Thr108Arg
XM_017013646.1:c.323C>G (CPA6)	XP_016869135.1:p.Thr108Arg
XR_001745565.1:n.1575C>G (CPA6)
NM_020361.5:c.767C>G (CPA6) MANE Select	NP_065094.3:p.Thr256Arg