Canonical Allele Identifier: CA5422797
Community Standard Title: NM_001081.4(CUBN):c.9139A>G (p.Ile3047Val)
Gene: CUBN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.16874471T>C , CM000672.2:g.16874471T>C GRCh38
NC_000010.10:g.16916470T>C , CM000672.1:g.16916470T>C GRCh37
NC_000010.9:g.16956476T>C NCBI36
NG_008967.1:g.260347A>G , LRG_540:g.260347A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001081.4:c.9139A>G MANE Select NP_001072.2:p.Ile3047Val
ENST00000377833.10:c.9139A>G MANE Select ENSP00000367064.4:p.Ile3047Val
NM_001081.3:c.9139A>G , LRG_540t1:c.9139A>G NP_001072.2:p.Ile3047Val
ENST00000377833.8:c.9139A>G ENSP00000367064.4:p.Ile3047Val
XM_011519709.1:c.5125A>G XP_011518011.1:p.Ile1709Val
XM_011519709.2:c.5125A>G XP_011518011.1:p.Ile1709Val
XM_011519710.1:c.5101A>G XP_011518012.1:p.Ile1701Val
XM_011519710.2:c.5101A>G XP_011518012.1:p.Ile1701Val
XM_011519711.1:c.4981A>G XP_011518013.1:p.Ile1661Val
XM_011519711.3:c.4981A>G XP_011518013.1:p.Ile1661Val