Canonical Allele Identifier: CA129109

Gene: CUL3

Linked Data

• ClinVar Variation Id: 30323
• ClinVar RCV Id: RCV000023258 ; RCV000128493
• dbSNP Id: rs199469656
• MyVariant Identifiers: chr2:g.225368508T>C (hg19) ; chr2:g.224503791T>C (hg38)
• PubMed: PMID:22266938

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.224503791T>C , CM000664.2:g.224503791T>C	GRCh38
NC_000002.11:g.225368508T>C , CM000664.1:g.225368508T>C	GRCh37
NC_000002.10:g.225076752T>C	NCBI36
NG_032169.1:g.86607A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264414.9:c.1238A>G MANE Select	ENSP00000264414.4:p.Asp413Gly
ENST00000264414.8:c.1238A>G	ENSP00000264414.4:p.Asp413Gly
ENST00000344951.8:c.1040A>G	ENSP00000343601.4:p.Asp347Gly
ENST00000409096.5:c.1166A>G	ENSP00000387200.1:p.Asp389Gly
ENST00000409777.5:c.1166A>G	ENSP00000386525.1:p.Asp389Gly
ENST00000481135.1:n.534A>G
ENST00000617432.4:c.-39A>G	ENSP00000477851.1:n.-39A>G
NM_001257197.1:c.1040A>G	NP_001244126.1:p.Asp347Gly
NM_001257198.1:c.1256A>G	NP_001244127.1:p.Asp419Gly
NM_003590.4:c.1238A>G	NP_003581.1:p.Asp413Gly
XM_006712800.2:c.1205A>G	XP_006712863.2:p.Asp402Gly
XM_011511994.1:c.1091A>G	XP_011510296.1:p.Asp364Gly
XM_011511995.1:c.1196A>G	XP_011510297.1:p.Asp399Gly
XM_011511996.1:c.1046A>G	XP_011510298.1:p.Asp349Gly
XM_011511997.1:c.938A>G	XP_011510299.1:p.Asp313Gly
XM_011511994.3:c.1091A>G	XP_011510296.1:p.Asp364Gly
XM_011511996.2:c.1046A>G	XP_011510298.1:p.Asp349Gly
NM_003590.5:c.1238A>G MANE Select	NP_003581.1:p.Asp413Gly
NM_001257198.2:c.1256A>G	NP_001244127.1:p.Asp419Gly
NM_001257197.2:c.1040A>G	NP_001244126.1:p.Asp347Gly