Canonical Allele Identifier: CA3813126

Gene: CUL7

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43038277A>G , CM000668.2:g.43038277A>G	GRCh38
NC_000006.11:g.43006015A>G , CM000668.1:g.43006015A>G	GRCh37
NC_000006.10:g.43113993A>G	NCBI36
NG_016205.1:g.20669T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014780.5:c.4763T>C MANE Select	NP_055595.2:p.Leu1588Pro
ENST00000265348.9:c.4763T>C MANE Select	ENSP00000265348.4:p.Leu1588Pro
NM_001168370.1:c.5015T>C	NP_001161842.1:p.Leu1672Pro
NM_001168370.2:c.4859T>C	NP_001161842.2:p.Leu1620Pro
NM_001374872.1:c.4859T>C	NP_001361801.1:p.Leu1620Pro
NM_001374873.1:c.4775T>C	NP_001361802.1:p.Leu1592Pro
NM_001374874.1:c.4760T>C	NP_001361803.1:p.Leu1587Pro
NM_014780.4:c.4763T>C	NP_055595.2:p.Leu1588Pro
ENST00000265348.7:c.4763T>C	ENSP00000265348.3:p.Leu1588Pro
ENST00000478630.2:n.2983T>C
ENST00000535468.1:c.5015T>C	ENSP00000438788.1:p.Leu1672Pro
ENST00000673725.1:c.2623T>C
ENST00000673753.1:n.5591T>C
ENST00000674100.1:c.4859T>C	ENSP00000501292.1:p.Leu1620Pro
ENST00000674112.1:c.3244T>C
ENST00000674112.2:c.*105T>C	ENSP00000501166.2:n.*105T>C
ENST00000674134.1:c.4859T>C	ENSP00000501068.1:p.Leu1620Pro
ENST00000683242.1:n.1310T>C
ENST00000685042.1:c.*1419T>C	ENSP00000509871.1:n.*1419T>C
ENST00000686442.1:n.5641T>C
ENST00000687225.1:c.*3049T>C	ENSP00000509364.1:n.*3049T>C
ENST00000688302.1:n.5184T>C
ENST00000689256.1:n.5340T>C
ENST00000690231.1:c.4763T>C	ENSP00000508461.1:p.Leu1588Pro
ENST00000692002.1:c.788T>C	ENSP00000508567.1:p.Leu263Pro
XM_005249503.1:c.4919T>C	XP_005249560.1:p.Leu1640Pro
XM_005249503.3:c.4919T>C	XP_005249560.1:p.Leu1640Pro
XM_006715285.1:c.4871T>C	XP_006715348.1:p.Leu1624Pro
XM_006715285.2:c.4871T>C	XP_006715348.1:p.Leu1624Pro
XM_011515019.1:c.5027T>C	XP_011513321.1:p.Leu1676Pro
XM_011515019.2:c.5027T>C	XP_011513321.1:p.Leu1676Pro
XM_011515020.1:c.4931T>C	XP_011513322.1:p.Leu1644Pro
XM_011515020.2:c.4931T>C	XP_011513322.1:p.Leu1644Pro
XM_011515021.1:c.2636T>C	XP_011513323.1:p.Leu879Pro
XM_017011533.1:c.5054T>C	XP_016867022.1:p.Leu1685Pro
XM_017011534.1:c.5042T>C	XP_016867023.1:p.Leu1681Pro
XM_017011535.1:c.4958T>C	XP_016867024.1:p.Leu1653Pro
XM_017011536.2:c.4898T>C	XP_016867025.1:p.Leu1633Pro
XM_017011537.2:c.4859T>C	XP_016867026.1:p.Leu1620Pro
XM_017011538.2:c.4802T>C	XP_016867027.1:p.Leu1601Pro
XM_017011539.2:c.4775T>C	XP_016867028.1:p.Leu1592Pro