Canonical Allele Identifier: CA364218652

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43048244C>A , CM000668.2:g.43048244C>A GRCh38
NC_000006.11:g.43015982C>A , CM000668.1:g.43015982C>A GRCh37
NC_000006.10:g.43123960C>A NCBI36
NG_016205.1:g.10702G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000674112.2:c.2073G>T (CUL7) ENSP00000501166.2:p.Lys691Asn
ENST00000685042.1:c.2073G>T (CUL7) ENSP00000509871.1:p.Lys691Asn
ENST00000686442.1:n.2356G>T (CUL7)
ENST00000687225.1:c.2169G>T (CUL7) ENSP00000509364.1:p.Lys723Asn
ENST00000688302.1:n.2356G>T (CUL7)
ENST00000689256.1:n.2372G>T (CUL7)
ENST00000690231.1:c.2073G>T (CUL7) ENSP00000508461.1:p.Lys691Asn
ENST00000265348.9:c.2073G>T (CUL7) MANE Select ENSP00000265348.4:p.Lys691Asn
ENST00000673725.1:c.22G>T (CUL7)
ENST00000673753.1:n.2407G>T (CUL7)
ENST00000674100.1:c.2169G>T (CUL7) ENSP00000501292.1:p.Lys723Asn
ENST00000674112.1:c.565G>T (CUL7)
ENST00000674134.1:c.2169G>T (CUL7) ENSP00000501068.1:p.Lys723Asn
ENST00000265348.7:c.2073G>T (CUL7) ENSP00000265348.3:p.Lys691Asn
ENST00000467906.5:c.-553+4736C>A (KLC4) ENSP00000418759.1:n.-553+4736C>A
ENST00000535468.1:c.2325G>T (CUL7) ENSP00000438788.1:p.Lys775Asn
NM_001168370.1:c.2325G>T (CUL7) NP_001161842.1:p.Lys775Asn
NM_014780.4:c.2073G>T (CUL7) NP_055595.2:p.Lys691Asn
XM_005249503.1:c.2229G>T (CUL7) XP_005249560.1:p.Lys743Asn
XM_006715285.1:c.2169G>T (CUL7) XP_006715348.1:p.Lys723Asn
XM_011515019.1:c.2325G>T (CUL7) XP_011513321.1:p.Lys775Asn
XM_011515020.1:c.2229G>T (CUL7) XP_011513322.1:p.Lys743Asn
XM_011515021.1:c.-110G>T (CUL7) XP_011513323.1:n.-110G>T
XM_005249503.3:c.2229G>T (CUL7) XP_005249560.1:p.Lys743Asn
XM_006715285.2:c.2169G>T (CUL7) XP_006715348.1:p.Lys723Asn
XM_011515019.2:c.2325G>T (CUL7) XP_011513321.1:p.Lys775Asn
XM_011515020.2:c.2229G>T (CUL7) XP_011513322.1:p.Lys743Asn
XM_017011533.1:c.2352G>T (CUL7) XP_016867022.1:p.Lys784Asn
XM_017011534.1:c.2352G>T (CUL7) XP_016867023.1:p.Lys784Asn
XM_017011535.1:c.2256G>T (CUL7) XP_016867024.1:p.Lys752Asn
XM_017011536.2:c.2196G>T (CUL7) XP_016867025.1:p.Lys732Asn
XM_017011537.2:c.2169G>T (CUL7) XP_016867026.1:p.Lys723Asn
XM_017011538.2:c.2100G>T (CUL7) XP_016867027.1:p.Lys700Asn
XM_017011539.2:c.2073G>T (CUL7) XP_016867028.1:p.Lys691Asn
XM_017011540.1:c.2352G>T (CUL7) XP_016867029.1:p.Lys784Asn
NM_001168370.2:c.2169G>T (CUL7) NP_001161842.2:p.Lys723Asn
NM_001374872.1:c.2169G>T (CUL7) NP_001361801.1:p.Lys723Asn
NM_001374873.1:c.2073G>T (CUL7) NP_001361802.1:p.Lys691Asn
NM_001374874.1:c.2073G>T (CUL7) NP_001361803.1:p.Lys691Asn
NM_014780.5:c.2073G>T (CUL7) MANE Select NP_055595.2:p.Lys691Asn