Canonical Allele Identifier: CA350827599

Gene: CUL3

Linked Data

• dbSNP Id: rs2106197360
• gnomAD v4: 2-224503776-A-G
• MyVariant Identifiers: chr2:g.225368493A>G (hg19) ; chr2:g.224503776A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.224503776A>G , CM000664.2:g.224503776A>G	GRCh38
NC_000002.11:g.225368493A>G , CM000664.1:g.225368493A>G	GRCh37
NC_000002.10:g.225076737A>G	NCBI36
NG_032169.1:g.86622T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264414.9:c.1253T>C MANE Select	ENSP00000264414.4:p.Leu418Pro
ENST00000264414.8:c.1253T>C	ENSP00000264414.4:p.Leu418Pro
ENST00000344951.8:c.1055T>C	ENSP00000343601.4:p.Leu352Pro
ENST00000409096.5:c.1181T>C	ENSP00000387200.1:p.Leu394Pro
ENST00000409777.5:c.1181T>C	ENSP00000386525.1:p.Leu394Pro
ENST00000481135.1:n.549T>C
ENST00000617432.4:c.-24T>C	ENSP00000477851.1:n.-24T>C
NM_001257197.1:c.1055T>C	NP_001244126.1:p.Leu352Pro
NM_001257198.1:c.1271T>C	NP_001244127.1:p.Leu424Pro
NM_003590.4:c.1253T>C	NP_003581.1:p.Leu418Pro
XM_006712800.2:c.1220T>C	XP_006712863.2:p.Leu407Pro
XM_011511994.1:c.1106T>C	XP_011510296.1:p.Leu369Pro
XM_011511995.1:c.1211T>C	XP_011510297.1:p.Leu404Pro
XM_011511996.1:c.1061T>C	XP_011510298.1:p.Leu354Pro
XM_011511997.1:c.953T>C	XP_011510299.1:p.Leu318Pro
XM_011511994.3:c.1106T>C	XP_011510296.1:p.Leu369Pro
XM_011511996.2:c.1061T>C	XP_011510298.1:p.Leu354Pro
NM_003590.5:c.1253T>C MANE Select	NP_003581.1:p.Leu418Pro
NM_001257198.2:c.1271T>C	NP_001244127.1:p.Leu424Pro
NM_001257197.2:c.1055T>C	NP_001244126.1:p.Leu352Pro