Canonical Allele Identifier: CA5422271

Gene: CUBN

Linked Data

• ClinVar Variation Id: 299355
• ClinVar RCV Id: RCV000338931 ; RCV001054711
• dbSNP Id: rs564429505
• ExAC: 10:16867000 C / T
• gnomAD v2: 10-16867000-C-T
• gnomAD v3: 10-16825001-C-T
• gnomAD v4: 10-16825001-C-T
• COSMIC: COSM181904
• MyVariant Identifiers: chr10:g.16867000C>T (hg19) ; chr10:g.16825001C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.16825001C>T , CM000672.2:g.16825001C>T	GRCh38
NC_000010.10:g.16867000C>T , CM000672.1:g.16867000C>T	GRCh37
NC_000010.9:g.16907006C>T	NCBI36
NG_008967.1:g.309817G>A , LRG_540:g.309817G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000377833.10:c.10846G>A MANE Select	ENSP00000367064.4:p.Ala3616Thr
ENST00000377833.8:c.10846G>A	ENSP00000367064.4:p.Ala3616Thr
NM_001081.3:c.10846G>A , LRG_540t1:c.10846G>A	NP_001072.2:p.Ala3616Thr
XM_011519709.1:c.6832G>A	XP_011518011.1:p.Ala2278Thr
XM_011519710.1:c.6808G>A	XP_011518012.1:p.Ala2270Thr
XM_011519711.1:c.6688G>A	XP_011518013.1:p.Ala2230Thr
XM_011519709.2:c.6832G>A	XP_011518011.1:p.Ala2278Thr
XM_011519710.2:c.6808G>A	XP_011518012.1:p.Ala2270Thr
XM_011519711.3:c.6688G>A	XP_011518013.1:p.Ala2230Thr
NM_001081.4:c.10846G>A MANE Select	NP_001072.2:p.Ala3616Thr