Canonical Allele Identifier: CA2140047
Community Standard Title: NM_003590.5(CUL3):c.1036T>C (p.Leu346=)
Gene: CUL3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.224506126A>G , CM000664.2:g.224506126A>G GRCh38
NC_000002.11:g.225370843A>G , CM000664.1:g.225370843A>G GRCh37
NC_000002.10:g.225079087A>G NCBI36
NG_032169.1:g.84272T>C

Transcript Alleles

HGVS Amino-acid Change
NM_003590.5:c.1036T>C MANE Select NP_003581.1:p.Leu346=
ENST00000264414.9:c.1036T>C MANE Select ENSP00000264414.4:p.Leu346=
NM_001257197.1:c.838T>C NP_001244126.1:p.Leu280=
NM_001257197.2:c.838T>C NP_001244126.1:p.Leu280=
NM_001257198.1:c.1054T>C NP_001244127.1:p.Leu352=
NM_001257198.2:c.1054T>C NP_001244127.1:p.Leu352=
NM_003590.4:c.1036T>C NP_003581.1:p.Leu346=
ENST00000264414.8:c.1036T>C ENSP00000264414.4:p.Leu346=
ENST00000344951.8:c.838T>C ENSP00000343601.4:p.Leu280=
ENST00000409096.5:c.964T>C ENSP00000387200.1:p.Leu322=
ENST00000409777.5:c.964T>C ENSP00000386525.1:p.Leu322=
ENST00000484081.1:n.211T>C
XM_006712800.2:c.1003T>C XP_006712863.2:p.Leu335=
XM_011511994.1:c.889T>C XP_011510296.1:p.Leu297=
XM_011511994.3:c.889T>C XP_011510296.1:p.Leu297=
XM_011511995.1:c.994T>C XP_011510297.1:p.Leu332=
XM_011511996.1:c.844T>C XP_011510298.1:p.Leu282=
XM_011511996.2:c.844T>C XP_011510298.1:p.Leu282=
XM_011511997.1:c.736T>C XP_011510299.1:p.Leu246=