Canonical Allele Identifier: CA5423700
Community Standard Title: NM_001081.4(CUBN):c.6364G>A (p.Val2122Ile)
Gene: CUBN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.16925682C>T , CM000672.2:g.16925682C>T GRCh38
NC_000010.10:g.16967681C>T , CM000672.1:g.16967681C>T GRCh37
NC_000010.9:g.17007687C>T NCBI36
NG_008967.1:g.209136G>A , LRG_540:g.209136G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001081.4:c.6364G>A MANE Select NP_001072.2:p.Val2122Ile
ENST00000377833.10:c.6364G>A MANE Select ENSP00000367064.4:p.Val2122Ile
NM_001081.3:c.6364G>A , LRG_540t1:c.6364G>A NP_001072.2:p.Val2122Ile
ENST00000377833.8:c.6364G>A ENSP00000367064.4:p.Val2122Ile
XM_011519708.1:c.6364G>A XP_011518010.1:p.Val2122Ile
XM_011519708.2:c.6364G>A XP_011518010.1:p.Val2122Ile
XM_011519709.1:c.2350G>A XP_011518011.1:p.Val784Ile
XM_011519709.2:c.2350G>A XP_011518011.1:p.Val784Ile
XM_011519710.1:c.2326G>A XP_011518012.1:p.Val776Ile
XM_011519710.2:c.2326G>A XP_011518012.1:p.Val776Ile
XM_011519711.1:c.2206G>A XP_011518013.1:p.Val736Ile
XM_011519711.3:c.2206G>A XP_011518013.1:p.Val736Ile