Canonical Allele Identifier: CA5424315
Community Standard Title: NM_001081.4(CUBN):c.4669C>T (p.Leu1557Phe)
Gene: CUBN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.16982510G>A , CM000672.2:g.16982510G>A GRCh38
NC_000010.10:g.17024509G>A , CM000672.1:g.17024509G>A GRCh37
NC_000010.9:g.17064515G>A NCBI36
NG_008967.1:g.152308C>T , LRG_540:g.152308C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001081.4:c.4669C>T MANE Select NP_001072.2:p.Leu1557Phe
ENST00000377833.10:c.4669C>T MANE Select ENSP00000367064.4:p.Leu1557Phe
NM_001081.3:c.4669C>T , LRG_540t1:c.4669C>T NP_001072.2:p.Leu1557Phe
ENST00000377833.8:c.4669C>T ENSP00000367064.4:p.Leu1557Phe
ENST00000438254.1:c.235C>T ENSP00000391830.1:p.Leu79Phe
XM_011519708.1:c.4669C>T XP_011518010.1:p.Leu1557Phe
XM_011519708.2:c.4669C>T XP_011518010.1:p.Leu1557Phe
XM_011519709.1:c.655C>T XP_011518011.1:p.Leu219Phe
XM_011519709.2:c.655C>T XP_011518011.1:p.Leu219Phe
XM_011519710.1:c.631C>T XP_011518012.1:p.Leu211Phe
XM_011519710.2:c.631C>T XP_011518012.1:p.Leu211Phe
XM_011519711.1:c.511C>T XP_011518013.1:p.Leu171Phe
XM_011519711.3:c.511C>T XP_011518013.1:p.Leu171Phe