Canonical Allele Identifier: CA371260935

Gene: CPA6 ARFGEF1-DT

Linked Data

• gnomAD v4: 8-67483848-C-T
• MyVariant Identifiers: chr8:g.68396083C>T (hg19) ; chr8:g.67483848C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.67483848C>T , CM000670.2:g.67483848C>T	GRCh38
NC_000008.10:g.68396083C>T , CM000670.1:g.68396083C>T	GRCh37
NC_000008.9:g.68558637C>T	NCBI36
NG_027682.1:g.267538G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297770.10:c.758G>A (CPA6) MANE Select	ENSP00000297770.4:p.Trp253Ter
ENST00000638254.1:c.*354G>A (CPA6)	ENSP00000491129.1:n.*354G>A
ENST00000297770.8:c.758G>A (CPA6)	ENSP00000297770.4:p.Trp253Ter
ENST00000479862.6:c.*354G>A (CPA6)	ENSP00000419016.2:n.*354G>A
ENST00000518549.1:c.758G>A (CPA6)	ENSP00000431112.1:p.Trp253Ter
NM_020361.4:c.758G>A (CPA6)	NP_065094.3:p.Trp253Ter
XM_011517569.1:c.851G>A (CPA6)	XP_011515871.1:p.Trp284Ter
XM_011517570.1:c.314G>A (CPA6)	XP_011515872.1:p.Trp105Ter
NR_136224.1:n.694-7117C>T (ARFGEF1-DT)
XM_011517570.2:c.314G>A (CPA6)	XP_011515872.1:p.Trp105Ter
XM_017013646.1:c.314G>A (CPA6)	XP_016869135.1:p.Trp105Ter
XR_001745565.1:n.1566G>A (CPA6)
NM_020361.5:c.758G>A (CPA6) MANE Select	NP_065094.3:p.Trp253Ter