Canonical Allele Identifier: CA4772854

Gene: CPA6 ARFGEF1-DT

Linked Data

• ClinVar Variation Id: 539979
• ClinVar RCV Id: RCV000649888 ; RCV000778862
• dbSNP Id: rs139178030
• ExAC: 8:68396082 C / T
• gnomAD v2: 8-68396082-C-T
• gnomAD v3: 8-67483847-C-T
• gnomAD v4: 8-67483847-C-T
• COSMIC: COSM3650385 ; COSM3650386
• MyVariant Identifiers: chr8:g.68396082C>T (hg19) ; chr8:g.67483847C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.67483847C>T , CM000670.2:g.67483847C>T	GRCh38
NC_000008.10:g.68396082C>T , CM000670.1:g.68396082C>T	GRCh37
NC_000008.9:g.68558636C>T	NCBI36
NG_027682.1:g.267539G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297770.10:c.759G>A (CPA6) MANE Select	ENSP00000297770.4:p.Trp253Ter
ENST00000638254.1:c.*355G>A (CPA6)	ENSP00000491129.1:n.*355G>A
ENST00000297770.8:c.759G>A (CPA6)	ENSP00000297770.4:p.Trp253Ter
ENST00000479862.6:c.*355G>A (CPA6)	ENSP00000419016.2:n.*355G>A
ENST00000518549.1:c.759G>A (CPA6)	ENSP00000431112.1:p.Trp253Ter
NM_020361.4:c.759G>A (CPA6)	NP_065094.3:p.Trp253Ter
XM_011517569.1:c.852G>A (CPA6)	XP_011515871.1:p.Trp284Ter
XM_011517570.1:c.315G>A (CPA6)	XP_011515872.1:p.Trp105Ter
NR_136224.1:n.694-7118C>T (ARFGEF1-DT)
XM_011517570.2:c.315G>A (CPA6)	XP_011515872.1:p.Trp105Ter
XM_017013646.1:c.315G>A (CPA6)	XP_016869135.1:p.Trp105Ter
XR_001745565.1:n.1567G>A (CPA6)
NM_020361.5:c.759G>A (CPA6) MANE Select	NP_065094.3:p.Trp253Ter