Canonical Allele Identifier: CA4773001

Gene: CPA6

Linked Data

• ClinVar Variation Id: 363611
• ClinVar RCV Id: RCV000332694 ; RCV000707247 ; RCV002261082 ; RCV004022083
• dbSNP Id: rs151119622
• ExAC: 8:68423882 A / G
• gnomAD v2: 8-68423882-A-G
• gnomAD v3: 8-67511647-A-G
• gnomAD v4: 8-67511647-A-G
• COSMIC: COSM750912
• MyVariant Identifiers: chr8:g.68423882A>G (hg19) ; chr8:g.67511647A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.67511647A>G , CM000670.2:g.67511647A>G	GRCh38
NC_000008.10:g.68423882A>G , CM000670.1:g.68423882A>G	GRCh37
NC_000008.9:g.68586436A>G	NCBI36
NG_027682.1:g.239739T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297770.10:c.326T>C MANE Select	ENSP00000297770.4:p.Ile109Thr
ENST00000638254.1:c.201T>C	ENSP00000491129.1:p.His67=
ENST00000297770.8:c.326T>C	ENSP00000297770.4:p.Ile109Thr
ENST00000479862.6:c.201T>C	ENSP00000419016.2:p.His67=
ENST00000518549.1:c.326T>C	ENSP00000431112.1:p.Ile109Thr
NM_020361.4:c.326T>C	NP_065094.3:p.Ile109Thr
XM_011517569.1:c.326T>C	XP_011515871.1:p.Ile109Thr
XM_011517570.1:c.-119T>C	XP_011515872.1:n.-119T>C
XM_011517570.2:c.-119T>C	XP_011515872.1:n.-119T>C
XM_017013646.1:c.-119T>C	XP_016869135.1:n.-119T>C
XM_017013647.1:c.326T>C	XP_016869136.1:p.Ile109Thr
XR_001745565.1:n.1134T>C
NM_020361.5:c.326T>C MANE Select	NP_065094.3:p.Ile109Thr