Canonical Allele Identifier: CA10576306

Gene: LDLR

Linked Data

• ClinVar Variation Id: 226356
• ClinVar RCV Id: RCV000211662 ; RCV001049393 ; RCV004020584
• dbSNP Id: rs875989921
• gnomAD v4: 19-11113624-G-A
• MyVariant Identifiers: chr19:g.11224300G>A (hg19) ; chr19:g.11113624G>A (hg38)
• PubMed: PMID:7903864 ; PMID:10657581 ; PMID:19073363 ; PMID:23375686

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1706G>A	ENSP00000252444.6:p.Trp569Ter
ENST00000559340.2:c.1448G>A	ENSP00000453696.2:p.Trp483Ter
ENST00000560467.2:c.1328G>A	ENSP00000453513.2:p.Trp443Ter
ENST00000558518.6:c.1448G>A MANE Select	ENSP00000454071.1:p.Trp483Ter
ENST00000252444.9:c.1702G>A
ENST00000455727.6:c.944G>A	ENSP00000397829.2:p.Trp315Ter
ENST00000535915.5:c.1325G>A	ENSP00000440520.1:p.Trp442Ter
ENST00000545707.5:c.1067G>A	ENSP00000437639.1:p.Trp356Ter
ENST00000557933.5:c.1448G>A	ENSP00000453557.1:p.Trp483Ter
ENST00000558013.5:c.1448G>A	ENSP00000453346.1:p.Trp483Ter
ENST00000558518.5:c.1448G>A	ENSP00000454071.1:p.Trp483Ter
ENST00000559340.1:c.169G>A
ENST00000560467.1:c.928G>A
NM_000527.4:c.1448G>A , LRG_274t1:c.1448G>A	NP_000518.1:p.Trp483Ter
NM_001195798.1:c.1448G>A	NP_001182727.1:p.Trp483Ter
NM_001195799.1:c.1325G>A	NP_001182728.1:p.Trp442Ter
NM_001195800.1:c.944G>A	NP_001182729.1:p.Trp315Ter
NM_001195803.1:c.1067G>A	NP_001182732.1:p.Trp356Ter
XM_011528010.1:c.1448G>A	XP_011526312.1:p.Trp483Ter
XM_011528011.1:c.1067G>A	XP_011526313.1:p.Trp356Ter
XR_244074.2:n.1598G>A
XM_011528010.2:c.1448G>A	XP_011526312.1:p.Trp483Ter
XR_001753685.2:n.1565G>A
XR_001753686.2:n.1565G>A
NM_000527.5:c.1448G>A MANE Select	NP_000518.1:p.Trp483Ter
NM_001195798.2:c.1448G>A	NP_001182727.1:p.Trp483Ter
NM_001195799.2:c.1325G>A	NP_001182728.1:p.Trp442Ter
NM_001195800.2:c.944G>A	NP_001182729.1:p.Trp315Ter
NM_001195803.2:c.1067G>A	NP_001182732.1:p.Trp356Ter