Canonical Allele Identifier: CA5423230
Community Standard Title: NM_001081.4(CUBN):c.7837A>C (p.Ile2613Leu)
Gene: CUBN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.16906278T>G , CM000672.2:g.16906278T>G GRCh38
NC_000010.10:g.16948277T>G , CM000672.1:g.16948277T>G GRCh37
NC_000010.9:g.16988283T>G NCBI36
NG_008967.1:g.228540A>C , LRG_540:g.228540A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001081.4:c.7837A>C MANE Select NP_001072.2:p.Ile2613Leu
ENST00000377833.10:c.7837A>C MANE Select ENSP00000367064.4:p.Ile2613Leu
NM_001081.3:c.7837A>C , LRG_540t1:c.7837A>C NP_001072.2:p.Ile2613Leu
ENST00000377833.8:c.7837A>C ENSP00000367064.4:p.Ile2613Leu
ENST00000648092.1:n.373A>C
ENST00000649933.1:n.199A>C
XM_011519708.1:c.7837A>C XP_011518010.1:p.Ile2613Leu
XM_011519708.2:c.7837A>C XP_011518010.1:p.Ile2613Leu
XM_011519709.1:c.3823A>C XP_011518011.1:p.Ile1275Leu
XM_011519709.2:c.3823A>C XP_011518011.1:p.Ile1275Leu
XM_011519710.1:c.3799A>C XP_011518012.1:p.Ile1267Leu
XM_011519710.2:c.3799A>C XP_011518012.1:p.Ile1267Leu
XM_011519711.1:c.3679A>C XP_011518013.1:p.Ile1227Leu
XM_011519711.3:c.3679A>C XP_011518013.1:p.Ile1227Leu