Canonical Allele Identifier: CA404086508
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 928518
ClinVar RCV Id: RCV001192514
dbSNP Id: rs2077420485
MyVariant Identifiers: chr19:g.11224374A>T (hg19) chr19:g.11113698A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113698A>T , CM000681.2:g.11113698A>T GRCh38
NC_000019.9:g.11224374A>T , CM000681.1:g.11224374A>T GRCh37
NC_000019.8:g.11085374A>T NCBI36
NG_009060.1:g.29318A>T , LRG_274:g.29318A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1780A>T ENSP00000252444.6:p.Arg594Trp
ENST00000559340.2:c.1522A>T ENSP00000453696.2:p.Arg508Trp
ENST00000560467.2:c.1402A>T ENSP00000453513.2:p.Arg468Trp
ENST00000558518.6:c.1522A>T MANE Select ENSP00000454071.1:p.Arg508Trp
ENST00000252444.9:c.1776A>T
ENST00000455727.6:c.1018A>T ENSP00000397829.2:p.Arg340Trp
ENST00000535915.5:c.1399A>T ENSP00000440520.1:p.Arg467Trp
ENST00000545707.5:c.1141A>T ENSP00000437639.1:p.Arg381Trp
ENST00000557933.5:c.1522A>T ENSP00000453557.1:p.Arg508Trp
ENST00000558013.5:c.1522A>T ENSP00000453346.1:p.Arg508Trp
ENST00000558518.5:c.1522A>T ENSP00000454071.1:p.Arg508Trp
ENST00000559340.1:c.243A>T
NM_000527.4:c.1522A>T , LRG_274t1:c.1522A>T NP_000518.1:p.Arg508Trp
NM_001195798.1:c.1522A>T NP_001182727.1:p.Arg508Trp
NM_001195799.1:c.1399A>T NP_001182728.1:p.Arg467Trp
NM_001195800.1:c.1018A>T NP_001182729.1:p.Arg340Trp
NM_001195803.1:c.1141A>T NP_001182732.1:p.Arg381Trp
XM_011528010.1:c.1522A>T XP_011526312.1:p.Arg508Trp
XM_011528011.1:c.1141A>T XP_011526313.1:p.Arg381Trp
XR_244074.2:n.1672A>T
XM_011528010.2:c.1522A>T XP_011526312.1:p.Arg508Trp
XR_001753685.2:n.1639A>T
XR_001753686.2:n.1639A>T
NM_000527.5:c.1522A>T MANE Select NP_000518.1:p.Arg508Trp
NM_001195798.2:c.1522A>T NP_001182727.1:p.Arg508Trp
NM_001195799.2:c.1399A>T NP_001182728.1:p.Arg467Trp
NM_001195800.2:c.1018A>T NP_001182729.1:p.Arg340Trp
NM_001195803.2:c.1141A>T NP_001182732.1:p.Arg381Trp
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