Canonical Allele Identifier: CA5424214
Community Standard Title: NM_001081.4(CUBN):c.4907G>T (p.Arg1636Leu)
Gene: CUBN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.16952338C>A , CM000672.2:g.16952338C>A GRCh38
NC_000010.10:g.16994337C>A , CM000672.1:g.16994337C>A GRCh37
NC_000010.9:g.17034343C>A NCBI36
NG_008967.1:g.182480G>T , LRG_540:g.182480G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001081.4:c.4907G>T MANE Select NP_001072.2:p.Arg1636Leu
ENST00000377833.10:c.4907G>T MANE Select ENSP00000367064.4:p.Arg1636Leu
NM_001081.3:c.4907G>T , LRG_540t1:c.4907G>T NP_001072.2:p.Arg1636Leu
ENST00000377833.8:c.4907G>T ENSP00000367064.4:p.Arg1636Leu
XM_011519708.1:c.4907G>T XP_011518010.1:p.Arg1636Leu
XM_011519708.2:c.4907G>T XP_011518010.1:p.Arg1636Leu
XM_011519709.1:c.893G>T XP_011518011.1:p.Arg298Leu
XM_011519709.2:c.893G>T XP_011518011.1:p.Arg298Leu
XM_011519710.1:c.869G>T XP_011518012.1:p.Arg290Leu
XM_011519710.2:c.869G>T XP_011518012.1:p.Arg290Leu
XM_011519711.1:c.749G>T XP_011518013.1:p.Arg250Leu
XM_011519711.3:c.749G>T XP_011518013.1:p.Arg250Leu