Canonical Allele Identifier: CA3813088
Community Standard Title: NM_014780.5(CUL7):c.4876C>G (p.Leu1626Val)
Gene: CUL7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43037909G>C , CM000668.2:g.43037909G>C GRCh38
NC_000006.11:g.43005647G>C , CM000668.1:g.43005647G>C GRCh37
NC_000006.10:g.43113625G>C NCBI36
NG_016205.1:g.21037C>G

Transcript Alleles

HGVS Amino-acid Change
NM_014780.5:c.4876C>G MANE Select NP_055595.2:p.Leu1626Val
ENST00000265348.9:c.4876C>G MANE Select ENSP00000265348.4:p.Leu1626Val
NM_001168370.1:c.5128C>G NP_001161842.1:p.Leu1710Val
NM_001168370.2:c.4972C>G NP_001161842.2:p.Leu1658Val
NM_001374872.1:c.4972C>G NP_001361801.1:p.Leu1658Val
NM_001374873.1:c.4888C>G NP_001361802.1:p.Leu1630Val
NM_001374874.1:c.4873C>G NP_001361803.1:p.Leu1625Val
NM_014780.4:c.4876C>G NP_055595.2:p.Leu1626Val
ENST00000265348.7:c.4876C>G ENSP00000265348.3:p.Leu1626Val
ENST00000478630.2:n.3096C>G
ENST00000535468.1:c.5128C>G ENSP00000438788.1:p.Leu1710Val
ENST00000673725.1:c.2736C>G
ENST00000673753.1:n.5704C>G
ENST00000674100.1:c.4972C>G ENSP00000501292.1:p.Leu1658Val
ENST00000674112.1:c.3357C>G
ENST00000674112.2:c.*218C>G ENSP00000501166.2:n.*218C>G
ENST00000674134.1:c.4972C>G ENSP00000501068.1:p.Leu1658Val
ENST00000683242.1:n.1423C>G
ENST00000685042.1:c.*1532C>G ENSP00000509871.1:n.*1532C>G
ENST00000686442.1:n.5754C>G
ENST00000687225.1:c.*3162C>G ENSP00000509364.1:n.*3162C>G
ENST00000688302.1:n.5297C>G
ENST00000689256.1:n.5453C>G
ENST00000690231.1:c.4876C>G ENSP00000508461.1:p.Leu1626Val
ENST00000692002.1:c.901C>G ENSP00000508567.1:p.Leu301Val
XM_005249503.1:c.5032C>G XP_005249560.1:p.Leu1678Val
XM_005249503.3:c.5032C>G XP_005249560.1:p.Leu1678Val
XM_006715285.1:c.4984C>G XP_006715348.1:p.Leu1662Val
XM_006715285.2:c.4984C>G XP_006715348.1:p.Leu1662Val
XM_011515019.1:c.5140C>G XP_011513321.1:p.Leu1714Val
XM_011515019.2:c.5140C>G XP_011513321.1:p.Leu1714Val
XM_011515020.1:c.5044C>G XP_011513322.1:p.Leu1682Val
XM_011515020.2:c.5044C>G XP_011513322.1:p.Leu1682Val
XM_011515021.1:c.2749C>G XP_011513323.1:p.Leu917Val
XM_017011533.1:c.5167C>G XP_016867022.1:p.Leu1723Val
XM_017011534.1:c.5155C>G XP_016867023.1:p.Leu1719Val
XM_017011535.1:c.5071C>G XP_016867024.1:p.Leu1691Val
XM_017011536.2:c.5011C>G XP_016867025.1:p.Leu1671Val
XM_017011537.2:c.4972C>G XP_016867026.1:p.Leu1658Val
XM_017011538.2:c.4915C>G XP_016867027.1:p.Leu1639Val
XM_017011539.2:c.4888C>G XP_016867028.1:p.Leu1630Val