Canonical Allele Identifier: CA10585025

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251337
• ClinVar RCV Id: RCV000238558 ; RCV000587367 ; RCV001345581 ; RCV004020952
• dbSNP Id: rs879254603
• gnomAD v4: 19-11105538-A-T
• MyVariant Identifiers: chr19:g.11216214A>T (hg19) ; chr19:g.11105538A>T (hg38)
• PubMed: PMID:12459547 ; PMID:17347910 ; PMID:21511053 ; PMID:22881376

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105538A>T , CM000681.2:g.11105538A>T	GRCh38
NC_000019.9:g.11216214A>T , CM000681.1:g.11216214A>T	GRCh37
NC_000019.8:g.11077214A>T	NCBI36
NG_009060.1:g.21158A>T , LRG_274:g.21158A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.890A>T	ENSP00000252444.6:p.His297Leu
ENST00000559340.2:c.632A>T	ENSP00000453696.2:p.His211Leu
ENST00000560467.2:c.632A>T	ENSP00000453513.2:p.His211Leu
ENST00000558518.6:c.632A>T MANE Select	ENSP00000454071.1:p.His211Leu
ENST00000252444.9:c.886A>T
ENST00000455727.6:c.314-1854A>T	ENSP00000397829.2:n.314-1854A>T
ENST00000535915.5:c.509A>T	ENSP00000440520.1:p.His170Leu
ENST00000545707.5:c.314-1027A>T	ENSP00000437639.1:n.314-1027A>T
ENST00000557933.5:c.632A>T	ENSP00000453557.1:p.His211Leu
ENST00000558013.5:c.632A>T	ENSP00000453346.1:p.His211Leu
ENST00000558518.5:c.632A>T	ENSP00000454071.1:p.His211Leu
ENST00000560467.1:c.232A>T
NM_000527.4:c.632A>T , LRG_274t1:c.632A>T	NP_000518.1:p.His211Leu
NM_001195798.1:c.632A>T	NP_001182727.1:p.His211Leu
NM_001195799.1:c.509A>T	NP_001182728.1:p.His170Leu
NM_001195800.1:c.314-1854A>T	NP_001182729.1:n.314-1854A>T
NM_001195803.1:c.314-1027A>T	NP_001182732.1:n.314-1027A>T
XM_011528010.1:c.632A>T	XP_011526312.1:p.His211Leu
XM_011528011.1:c.314-1027A>T	XP_011526313.1:n.314-1027A>T
XR_244074.2:n.782A>T
XM_011528010.2:c.632A>T	XP_011526312.1:p.His211Leu
XR_001753685.2:n.749A>T
XR_001753686.2:n.749A>T
NM_000527.5:c.632A>T MANE Select	NP_000518.1:p.His211Leu
NM_001195798.2:c.632A>T	NP_001182727.1:p.His211Leu
NM_001195799.2:c.509A>T	NP_001182728.1:p.His170Leu
NM_001195800.2:c.314-1854A>T	NP_001182729.1:n.314-1854A>T
NM_001195803.2:c.314-1027A>T	NP_001182732.1:n.314-1027A>T