Canonical Allele Identifier: CA364220800

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43048496T>G , CM000668.2:g.43048496T>G GRCh38
NC_000006.11:g.43016234T>G , CM000668.1:g.43016234T>G GRCh37
NC_000006.10:g.43124212T>G NCBI36
NG_016205.1:g.10450A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000674112.2:c.1899A>C (CUL7) ENSP00000501166.2:p.Lys633Asn
ENST00000685042.1:c.1899A>C (CUL7) ENSP00000509871.1:p.Lys633Asn
ENST00000686442.1:n.2182A>C (CUL7)
ENST00000687225.1:c.1995A>C (CUL7) ENSP00000509364.1:p.Lys665Asn
ENST00000688302.1:n.2182A>C (CUL7)
ENST00000689256.1:n.2198A>C (CUL7)
ENST00000690231.1:c.1899A>C (CUL7) ENSP00000508461.1:p.Lys633Asn
ENST00000265348.9:c.1899A>C (CUL7) MANE Select ENSP00000265348.4:p.Lys633Asn
ENST00000673753.1:n.2233A>C (CUL7)
ENST00000674100.1:c.1995A>C (CUL7) ENSP00000501292.1:p.Lys665Asn
ENST00000674112.1:c.391A>C (CUL7)
ENST00000674134.1:c.1995A>C (CUL7) ENSP00000501068.1:p.Lys665Asn
ENST00000265348.7:c.1899A>C (CUL7) ENSP00000265348.3:p.Lys633Asn
ENST00000467906.5:c.-553+4988T>G (KLC4) ENSP00000418759.1:n.-553+4988T>G
ENST00000535468.1:c.2151A>C (CUL7) ENSP00000438788.1:p.Lys717Asn
NM_001168370.1:c.2151A>C (CUL7) NP_001161842.1:p.Lys717Asn
NM_014780.4:c.1899A>C (CUL7) NP_055595.2:p.Lys633Asn
XM_005249503.1:c.2055A>C (CUL7) XP_005249560.1:p.Lys685Asn
XM_006715285.1:c.1995A>C (CUL7) XP_006715348.1:p.Lys665Asn
XM_011515019.1:c.2151A>C (CUL7) XP_011513321.1:p.Lys717Asn
XM_011515020.1:c.2055A>C (CUL7) XP_011513322.1:p.Lys685Asn
XM_011515021.1:c.-284A>C (CUL7) XP_011513323.1:n.-284A>C
XM_005249503.3:c.2055A>C (CUL7) XP_005249560.1:p.Lys685Asn
XM_006715285.2:c.1995A>C (CUL7) XP_006715348.1:p.Lys665Asn
XM_011515019.2:c.2151A>C (CUL7) XP_011513321.1:p.Lys717Asn
XM_011515020.2:c.2055A>C (CUL7) XP_011513322.1:p.Lys685Asn
XM_017011533.1:c.2178A>C (CUL7) XP_016867022.1:p.Lys726Asn
XM_017011534.1:c.2178A>C (CUL7) XP_016867023.1:p.Lys726Asn
XM_017011535.1:c.2082A>C (CUL7) XP_016867024.1:p.Lys694Asn
XM_017011536.2:c.2022A>C (CUL7) XP_016867025.1:p.Lys674Asn
XM_017011537.2:c.1995A>C (CUL7) XP_016867026.1:p.Lys665Asn
XM_017011538.2:c.1926A>C (CUL7) XP_016867027.1:p.Lys642Asn
XM_017011539.2:c.1899A>C (CUL7) XP_016867028.1:p.Lys633Asn
XM_017011540.1:c.2178A>C (CUL7) XP_016867029.1:p.Lys726Asn
NM_001168370.2:c.1995A>C (CUL7) NP_001161842.2:p.Lys665Asn
NM_001374872.1:c.1995A>C (CUL7) NP_001361801.1:p.Lys665Asn
NM_001374873.1:c.1899A>C (CUL7) NP_001361802.1:p.Lys633Asn
NM_001374874.1:c.1899A>C (CUL7) NP_001361803.1:p.Lys633Asn
NM_014780.5:c.1899A>C (CUL7) MANE Select NP_055595.2:p.Lys633Asn