Canonical Allele Identifier: CA404086098

Gene: LDLR

Linked Data

• ClinVar Variation Id: 440645
• ClinVar RCV Id: RCV000508884
• dbSNP Id: rs875989921
• MyVariant Identifiers: chr19:g.11224300G>T (hg19) ; chr19:g.11113624G>T (hg38)
• ERepo: CA404086098/MONDO:0007750/013

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113624G>T , CM000681.2:g.11113624G>T	GRCh38
NC_000019.9:g.11224300G>T , CM000681.1:g.11224300G>T	GRCh37
NC_000019.8:g.11085300G>T	NCBI36
NG_009060.1:g.29244G>T , LRG_274:g.29244G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1706G>T	ENSP00000252444.6:p.Trp569Leu
ENST00000559340.2:c.1448G>T	ENSP00000453696.2:p.Trp483Leu
ENST00000560467.2:c.1328G>T	ENSP00000453513.2:p.Trp443Leu
ENST00000558518.6:c.1448G>T MANE Select	ENSP00000454071.1:p.Trp483Leu
ENST00000252444.9:c.1702G>T
ENST00000455727.6:c.944G>T	ENSP00000397829.2:p.Trp315Leu
ENST00000535915.5:c.1325G>T	ENSP00000440520.1:p.Trp442Leu
ENST00000545707.5:c.1067G>T	ENSP00000437639.1:p.Trp356Leu
ENST00000557933.5:c.1448G>T	ENSP00000453557.1:p.Trp483Leu
ENST00000558013.5:c.1448G>T	ENSP00000453346.1:p.Trp483Leu
ENST00000558518.5:c.1448G>T	ENSP00000454071.1:p.Trp483Leu
ENST00000559340.1:c.169G>T
ENST00000560467.1:c.928G>T
NM_000527.4:c.1448G>T , LRG_274t1:c.1448G>T	NP_000518.1:p.Trp483Leu
NM_001195798.1:c.1448G>T	NP_001182727.1:p.Trp483Leu
NM_001195799.1:c.1325G>T	NP_001182728.1:p.Trp442Leu
NM_001195800.1:c.944G>T	NP_001182729.1:p.Trp315Leu
NM_001195803.1:c.1067G>T	NP_001182732.1:p.Trp356Leu
XM_011528010.1:c.1448G>T	XP_011526312.1:p.Trp483Leu
XM_011528011.1:c.1067G>T	XP_011526313.1:p.Trp356Leu
XR_244074.2:n.1598G>T
XM_011528010.2:c.1448G>T	XP_011526312.1:p.Trp483Leu
XR_001753685.2:n.1565G>T
XR_001753686.2:n.1565G>T
NM_000527.5:c.1448G>T MANE Select	NP_000518.1:p.Trp483Leu
NM_001195798.2:c.1448G>T	NP_001182727.1:p.Trp483Leu
NM_001195799.2:c.1325G>T	NP_001182728.1:p.Trp442Leu
NM_001195800.2:c.944G>T	NP_001182729.1:p.Trp315Leu
NM_001195803.2:c.1067G>T	NP_001182732.1:p.Trp356Leu