Canonical Allele Identifier: CA5422277

Gene: CUBN

Linked Data

• ClinVar Variation Id: 1531238
• ClinVar RCV Id: RCV002092369 ; RCV002473352 ; RCV003948886
• dbSNP Id: rs151134377
• ExAC: 10:16867012 G / A
• gnomAD v2: 10-16867012-G-A
• gnomAD v3: 10-16825013-G-A
• gnomAD v4: 10-16825013-G-A
• MyVariant Identifiers: chr10:g.16867012G>A (hg19) ; chr10:g.16825013G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.16825013G>A , CM000672.2:g.16825013G>A	GRCh38
NC_000010.10:g.16867012G>A , CM000672.1:g.16867012G>A	GRCh37
NC_000010.9:g.16907018G>A	NCBI36
NG_008967.1:g.309805C>T , LRG_540:g.309805C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000377833.10:c.10834C>T MANE Select	ENSP00000367064.4:p.Arg3612Trp
ENST00000377833.8:c.10834C>T	ENSP00000367064.4:p.Arg3612Trp
NM_001081.3:c.10834C>T , LRG_540t1:c.10834C>T	NP_001072.2:p.Arg3612Trp
XM_011519709.1:c.6820C>T	XP_011518011.1:p.Arg2274Trp
XM_011519710.1:c.6796C>T	XP_011518012.1:p.Arg2266Trp
XM_011519711.1:c.6676C>T	XP_011518013.1:p.Arg2226Trp
XM_011519709.2:c.6820C>T	XP_011518011.1:p.Arg2274Trp
XM_011519710.2:c.6796C>T	XP_011518012.1:p.Arg2266Trp
XM_011519711.3:c.6676C>T	XP_011518013.1:p.Arg2226Trp
NM_001081.4:c.10834C>T MANE Select	NP_001072.2:p.Arg3612Trp