Canonical Allele Identifier: CA5422849
Gene: CUBN HGNC NCBI
COSMIC:
COSM3751673 (not active)
MyVariant.info:
GRCh38 chr10:g.16877053T>C
GRCh37 chr10:g.16919052T>C
Revel Score:
ENST00000377833 (MANE Select) 0.124
gnomAD v2:
10:16919052 T / C
gnomAD v3:
10:16877053 T / C
gnomAD v4:
chr10-16877053-T-C
Joint Max Group AF 0.13039853 (SAS)
Genomes Max Group AF 0.11714085 (SAS)
Exomes Max Group AF 0.13072954 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.16877053T>C , CM000672.2:g.16877053T>C GRCh38
NC_000010.10:g.16919052T>C , CM000672.1:g.16919052T>C GRCh37
NC_000010.9:g.16959058T>C NCBI36
NG_008967.1:g.257765A>G , LRG_540:g.257765A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000377833.10:c.8950A>G MANE Select ENSP00000367064.4:p.Ile2984Val
ENST00000377833.8:c.8950A>G ENSP00000367064.4:p.Ile2984Val
NM_001081.3:c.8950A>G , LRG_540t1:c.8950A>G NP_001072.2:p.Ile2984Val
XM_011519709.1:c.4936A>G XP_011518011.1:p.Ile1646Val
XM_011519710.1:c.4912A>G XP_011518012.1:p.Ile1638Val
XM_011519711.1:c.4792A>G XP_011518013.1:p.Ile1598Val
XM_011519709.2:c.4936A>G XP_011518011.1:p.Ile1646Val
XM_011519710.2:c.4912A>G XP_011518012.1:p.Ile1638Val
XM_011519711.3:c.4792A>G XP_011518013.1:p.Ile1598Val
NM_001081.4:c.8950A>G MANE Select NP_001072.2:p.Ile2984Val
Search 100 bp 5'
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