Canonical Allele Identifier: CA364221198

Linked Data

gnomAD v4: 6-43048542-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43048542T>A , CM000668.2:g.43048542T>A GRCh38
NC_000006.11:g.43016280T>A , CM000668.1:g.43016280T>A GRCh37
NC_000006.10:g.43124258T>A NCBI36
NG_016205.1:g.10404A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000674112.2:c.1853A>T (CUL7) ENSP00000501166.2:p.Asn618Ile
ENST00000685042.1:c.1853A>T (CUL7) ENSP00000509871.1:p.Asn618Ile
ENST00000686442.1:n.2136A>T (CUL7)
ENST00000687225.1:c.1949A>T (CUL7) ENSP00000509364.1:p.Asn650Ile
ENST00000688302.1:n.2136A>T (CUL7)
ENST00000689256.1:n.2152A>T (CUL7)
ENST00000690231.1:c.1853A>T (CUL7) ENSP00000508461.1:p.Asn618Ile
ENST00000265348.9:c.1853A>T (CUL7) MANE Select ENSP00000265348.4:p.Asn618Ile
ENST00000673753.1:n.2187A>T (CUL7)
ENST00000674100.1:c.1949A>T (CUL7) ENSP00000501292.1:p.Asn650Ile
ENST00000674112.1:c.345A>T (CUL7)
ENST00000674134.1:c.1949A>T (CUL7) ENSP00000501068.1:p.Asn650Ile
ENST00000265348.7:c.1853A>T (CUL7) ENSP00000265348.3:p.Asn618Ile
ENST00000467906.5:c.-553+5034T>A (KLC4) ENSP00000418759.1:n.-553+5034T>A
ENST00000535468.1:c.2105A>T (CUL7) ENSP00000438788.1:p.Asn702Ile
NM_001168370.1:c.2105A>T (CUL7) NP_001161842.1:p.Asn702Ile
NM_014780.4:c.1853A>T (CUL7) NP_055595.2:p.Asn618Ile
XM_005249503.1:c.2009A>T (CUL7) XP_005249560.1:p.Asn670Ile
XM_006715285.1:c.1949A>T (CUL7) XP_006715348.1:p.Asn650Ile
XM_011515019.1:c.2105A>T (CUL7) XP_011513321.1:p.Asn702Ile
XM_011515020.1:c.2009A>T (CUL7) XP_011513322.1:p.Asn670Ile
XM_011515021.1:c.-330A>T (CUL7) XP_011513323.1:n.-330A>T
XM_005249503.3:c.2009A>T (CUL7) XP_005249560.1:p.Asn670Ile
XM_006715285.2:c.1949A>T (CUL7) XP_006715348.1:p.Asn650Ile
XM_011515019.2:c.2105A>T (CUL7) XP_011513321.1:p.Asn702Ile
XM_011515020.2:c.2009A>T (CUL7) XP_011513322.1:p.Asn670Ile
XM_017011533.1:c.2132A>T (CUL7) XP_016867022.1:p.Asn711Ile
XM_017011534.1:c.2132A>T (CUL7) XP_016867023.1:p.Asn711Ile
XM_017011535.1:c.2036A>T (CUL7) XP_016867024.1:p.Asn679Ile
XM_017011536.2:c.1976A>T (CUL7) XP_016867025.1:p.Asn659Ile
XM_017011537.2:c.1949A>T (CUL7) XP_016867026.1:p.Asn650Ile
XM_017011538.2:c.1880A>T (CUL7) XP_016867027.1:p.Asn627Ile
XM_017011539.2:c.1853A>T (CUL7) XP_016867028.1:p.Asn618Ile
XM_017011540.1:c.2132A>T (CUL7) XP_016867029.1:p.Asn711Ile
NM_001168370.2:c.1949A>T (CUL7) NP_001161842.2:p.Asn650Ile
NM_001374872.1:c.1949A>T (CUL7) NP_001361801.1:p.Asn650Ile
NM_001374873.1:c.1853A>T (CUL7) NP_001361802.1:p.Asn618Ile
NM_001374874.1:c.1853A>T (CUL7) NP_001361803.1:p.Asn618Ile
NM_014780.5:c.1853A>T (CUL7) MANE Select NP_055595.2:p.Asn618Ile