Canonical Allele Identifier: CA269960

Gene: CUL3

Linked Data

• ClinVar Variation Id: 100521
• ClinVar RCV Id: RCV000128492
• dbSNP Id: rs199469655
• MyVariant Identifiers: chr2:g.225368510C>T (hg19) ; chr2:g.224503793C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.224503793C>T , CM000664.2:g.224503793C>T	GRCh38
NC_000002.11:g.225368510C>T , CM000664.1:g.225368510C>T	GRCh37
NC_000002.10:g.225076754C>T	NCBI36
NG_032169.1:g.86605G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264414.9:c.1236G>A MANE Select	ENSP00000264414.4:p.Leu412=
ENST00000264414.8:c.1236G>A	ENSP00000264414.4:p.Leu412=
ENST00000344951.8:c.1038G>A	ENSP00000343601.4:p.Leu346=
ENST00000409096.5:c.1164G>A	ENSP00000387200.1:p.Leu388=
ENST00000409777.5:c.1164G>A	ENSP00000386525.1:p.Leu388=
ENST00000481135.1:n.532G>A
ENST00000617432.4:c.-41G>A	ENSP00000477851.1:n.-41G>A
NM_001257197.1:c.1038G>A	NP_001244126.1:p.Leu346=
NM_001257198.1:c.1254G>A	NP_001244127.1:p.Leu418=
NM_003590.4:c.1236G>A	NP_003581.1:p.Leu412=
XM_006712800.2:c.1203G>A	XP_006712863.2:p.Leu401=
XM_011511994.1:c.1089G>A	XP_011510296.1:p.Leu363=
XM_011511995.1:c.1194G>A	XP_011510297.1:p.Leu398=
XM_011511996.1:c.1044G>A	XP_011510298.1:p.Leu348=
XM_011511997.1:c.936G>A	XP_011510299.1:p.Leu312=
XM_011511994.3:c.1089G>A	XP_011510296.1:p.Leu363=
XM_011511996.2:c.1044G>A	XP_011510298.1:p.Leu348=
NM_003590.5:c.1236G>A MANE Select	NP_003581.1:p.Leu412=
NM_001257198.2:c.1254G>A	NP_001244127.1:p.Leu418=
NM_001257197.2:c.1038G>A	NP_001244126.1:p.Leu346=