Canonical Allele Identifier: CA5423082
Gene: CUBN HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.16900832C>A
GRCh37 chr10:g.16942831C>A
Revel Score:
ENST00000377833 (MANE Select) 0.230
gnomAD v2:
10:16942831 C / A
gnomAD v3:
10:16900832 C / A
gnomAD v4:
chr10-16900832-C-A
Joint Max Group AF 0.00017238 (NFE)
Genomes Max Group AF 0.00010173 (NFE)
Exomes Max Group AF 0.00017297 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.16900832C>A , CM000672.2:g.16900832C>A GRCh38
NC_000010.10:g.16942831C>A , CM000672.1:g.16942831C>A GRCh37
NC_000010.9:g.16982837C>A NCBI36
NG_008967.1:g.233986G>T , LRG_540:g.233986G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000377833.10:c.8203G>T MANE Select ENSP00000367064.4:p.Asp2735Tyr
ENST00000649933.1:n.565G>T
ENST00000377833.8:c.8203G>T ENSP00000367064.4:p.Asp2735Tyr
NM_001081.3:c.8203G>T , LRG_540t1:c.8203G>T NP_001072.2:p.Asp2735Tyr
XM_011519708.1:c.8203G>T XP_011518010.1:p.Asp2735Tyr
XM_011519709.1:c.4189G>T XP_011518011.1:p.Asp1397Tyr
XM_011519710.1:c.4165G>T XP_011518012.1:p.Asp1389Tyr
XM_011519711.1:c.4045G>T XP_011518013.1:p.Asp1349Tyr
XM_011519708.2:c.8203G>T XP_011518010.1:p.Asp2735Tyr
XM_011519709.2:c.4189G>T XP_011518011.1:p.Asp1397Tyr
XM_011519710.2:c.4165G>T XP_011518012.1:p.Asp1389Tyr
XM_011519711.3:c.4045G>T XP_011518013.1:p.Asp1349Tyr
NM_001081.4:c.8203G>T MANE Select NP_001072.2:p.Asp2735Tyr
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