Canonical Allele Identifier: CA023433

Gene: LDLR

Linked Data

• ClinVar Variation Id: 3735
• ClinVar RCV Id: RCV000003933 ; RCV001220262 ; RCV002345226
• dbSNP Id: rs121908038
• gnomAD v4: 19-11113293-T-A
• MyVariant Identifiers: chr19:g.11223969T>A (hg19) ; chr19:g.11113293T>A (hg38)
• PubMed: PMID:7573037 ; PMID:11810272 ; PMID:15701167

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113293T>A , CM000681.2:g.11113293T>A	GRCh38
NC_000019.9:g.11223969T>A , CM000681.1:g.11223969T>A	GRCh37
NC_000019.8:g.11084969T>A	NCBI36
NG_009060.1:g.28913T>A , LRG_274:g.28913T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1460T>A	ENSP00000252444.6:p.Leu487His
ENST00000559340.2:c.1202T>A	ENSP00000453696.2:p.Leu401His
ENST00000560467.2:c.1082T>A	ENSP00000453513.2:p.Leu361His
ENST00000558518.6:c.1202T>A MANE Select	ENSP00000454071.1:p.Leu401His
ENST00000252444.9:c.1456T>A
ENST00000455727.6:c.698T>A	ENSP00000397829.2:p.Leu233His
ENST00000535915.5:c.1079T>A	ENSP00000440520.1:p.Leu360His
ENST00000545707.5:c.821T>A	ENSP00000437639.1:p.Leu274His
ENST00000557933.5:c.1202T>A	ENSP00000453557.1:p.Leu401His
ENST00000558013.5:c.1202T>A	ENSP00000453346.1:p.Leu401His
ENST00000558518.5:c.1202T>A	ENSP00000454071.1:p.Leu401His
ENST00000560173.1:n.201T>A
ENST00000560467.1:c.682T>A
NM_000527.4:c.1202T>A , LRG_274t1:c.1202T>A	NP_000518.1:p.Leu401His
NM_001195798.1:c.1202T>A	NP_001182727.1:p.Leu401His
NM_001195799.1:c.1079T>A	NP_001182728.1:p.Leu360His
NM_001195800.1:c.698T>A	NP_001182729.1:p.Leu233His
NM_001195803.1:c.821T>A	NP_001182732.1:p.Leu274His
XM_011528010.1:c.1202T>A	XP_011526312.1:p.Leu401His
XM_011528011.1:c.821T>A	XP_011526313.1:p.Leu274His
XR_244074.2:n.1352T>A
XM_011528010.2:c.1202T>A	XP_011526312.1:p.Leu401His
XR_001753685.2:n.1319T>A
XR_001753686.2:n.1319T>A
NM_000527.5:c.1202T>A MANE Select	NP_000518.1:p.Leu401His
NM_001195798.2:c.1202T>A	NP_001182727.1:p.Leu401His
NM_001195799.2:c.1079T>A	NP_001182728.1:p.Leu360His
NM_001195800.2:c.698T>A	NP_001182729.1:p.Leu233His
NM_001195803.2:c.821T>A	NP_001182732.1:p.Leu274His