Canonical Allele Identifier: CA10585617
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252036
ClinVar RCV Id: RCV000238368
dbSNP Id: rs879255025

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11116949T>G , CM000681.2:g.11116949T>G GRCh38
NC_000019.9:g.11227625T>G , CM000681.1:g.11227625T>G GRCh37
NC_000019.8:g.11088625T>G NCBI36
NG_009060.1:g.32569T>G , LRG_274:g.32569T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2054T>G ENSP00000252444.6:p.Leu685Trp
ENST00000559340.2:c.1705+737T>G ENSP00000453696.2:n.1705+737T>G
ENST00000560467.2:c.1676T>G ENSP00000453513.2:p.Leu559Trp
ENST00000558518.6:c.1796T>G MANE Select ENSP00000454071.1:p.Leu599Trp
ENST00000252444.9:c.2050T>G
ENST00000455727.6:c.1292T>G ENSP00000397829.2:p.Leu431Trp
ENST00000535915.5:c.1673T>G ENSP00000440520.1:p.Leu558Trp
ENST00000545707.5:c.1415T>G ENSP00000437639.1:p.Leu472Trp
ENST00000557933.5:c.1796T>G ENSP00000453557.1:p.Leu599Trp
ENST00000558013.5:c.1796T>G ENSP00000453346.1:p.Leu599Trp
ENST00000558518.5:c.1796T>G ENSP00000454071.1:p.Leu599Trp
ENST00000559340.1:c.426+737T>G
NM_000527.4:c.1796T>G , LRG_274t1:c.1796T>G NP_000518.1:p.Leu599Trp
NM_001195798.1:c.1796T>G NP_001182727.1:p.Leu599Trp
NM_001195799.1:c.1673T>G NP_001182728.1:p.Leu558Trp
NM_001195800.1:c.1292T>G NP_001182729.1:p.Leu431Trp
NM_001195803.1:c.1415T>G NP_001182732.1:p.Leu472Trp
XM_011528010.1:c.1796T>G XP_011526312.1:p.Leu599Trp
XM_011528011.1:c.1415T>G XP_011526313.1:p.Leu472Trp
XR_244074.2:n.1855+737T>G
XM_011528010.2:c.1796T>G XP_011526312.1:p.Leu599Trp
XR_001753685.2:n.1913T>G
XR_001753686.2:n.1822+737T>G
NM_000527.5:c.1796T>G MANE Select NP_000518.1:p.Leu599Trp
NM_001195798.2:c.1796T>G NP_001182727.1:p.Leu599Trp
NM_001195799.2:c.1673T>G NP_001182728.1:p.Leu558Trp
NM_001195800.2:c.1292T>G NP_001182729.1:p.Leu431Trp
NM_001195803.2:c.1415T>G NP_001182732.1:p.Leu472Trp