Canonical Allele Identifier: CA5422521
Community Standard Title: NM_001081.4(CUBN):c.10028C>T (p.Pro3343Leu)
Gene: CUBN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.16840334G>A , CM000672.2:g.16840334G>A GRCh38
NC_000010.10:g.16882333G>A , CM000672.1:g.16882333G>A GRCh37
NC_000010.9:g.16922339G>A NCBI36
NG_008967.1:g.294484C>T , LRG_540:g.294484C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001081.4:c.10028C>T MANE Select NP_001072.2:p.Pro3343Leu
ENST00000377833.10:c.10028C>T MANE Select ENSP00000367064.4:p.Pro3343Leu
NM_001081.3:c.10028C>T , LRG_540t1:c.10028C>T NP_001072.2:p.Pro3343Leu
ENST00000377833.8:c.10028C>T ENSP00000367064.4:p.Pro3343Leu
XM_011519709.1:c.6014C>T XP_011518011.1:p.Pro2005Leu
XM_011519709.2:c.6014C>T XP_011518011.1:p.Pro2005Leu
XM_011519710.1:c.5990C>T XP_011518012.1:p.Pro1997Leu
XM_011519710.2:c.5990C>T XP_011518012.1:p.Pro1997Leu
XM_011519711.1:c.5870C>T XP_011518013.1:p.Pro1957Leu
XM_011519711.3:c.5870C>T XP_011518013.1:p.Pro1957Leu