Canonical Allele Identifier: CA404096854
Gene: LDLR HGNC NCBI

Linked Data

dbSNP Id: rs1252368409
MyVariant Identifiers: chr19:g.11238740C>G (hg19) chr19:g.11128064C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11128064C>G , CM000681.2:g.11128064C>G GRCh38
NC_000019.9:g.11238740C>G , CM000681.1:g.11238740C>G GRCh37
NC_000019.8:g.11099740C>G NCBI36
NG_009060.1:g.43684C>G , LRG_274:g.43684C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2626C>G ENSP00000252444.6:p.Leu876Val
ENST00000559340.2:c.*437C>G ENSP00000453696.2:n.*437C>G
ENST00000560467.2:c.2248C>G ENSP00000453513.2:p.Leu750Val
ENST00000558518.6:c.2368C>G MANE Select ENSP00000454071.1:p.Leu790Val
ENST00000252444.9:c.2622C>G
ENST00000455727.6:c.1864C>G ENSP00000397829.2:p.Leu622Val
ENST00000535915.5:c.2245C>G ENSP00000440520.1:p.Leu749Val
ENST00000545707.5:c.1834C>G ENSP00000437639.1:p.Leu612Val
ENST00000557933.5:c.2368C>G ENSP00000453557.1:p.Leu790Val
ENST00000558013.5:c.2368C>G ENSP00000453346.1:p.Leu790Val
ENST00000558518.5:c.2368C>G ENSP00000454071.1:p.Leu790Val
ENST00000560628.1:n.108+410C>G
NM_000527.4:c.2368C>G , LRG_274t1:c.2368C>G NP_000518.1:p.Leu790Val
NM_001195798.1:c.2368C>G NP_001182727.1:p.Leu790Val
NM_001195799.1:c.2245C>G NP_001182728.1:p.Leu749Val
NM_001195800.1:c.1864C>G NP_001182729.1:p.Leu622Val
NM_001195803.1:c.1834C>G NP_001182732.1:p.Leu612Val
XM_011528010.1:c.2312-1449C>G XP_011526312.1:n.2312-1449C>G
XM_011528011.1:c.1987C>G XP_011526313.1:p.Leu663Val
XR_244074.2:n.2378C>G
XM_011528010.2:c.2312-1449C>G XP_011526312.1:n.2312-1449C>G
XR_001753685.2:n.2702C>G
XR_001753686.2:n.2345C>G
NM_000527.5:c.2368C>G MANE Select NP_000518.1:p.Leu790Val
NM_001195798.2:c.2368C>G NP_001182727.1:p.Leu790Val
NM_001195799.2:c.2245C>G NP_001182728.1:p.Leu749Val
NM_001195800.2:c.1864C>G NP_001182729.1:p.Leu622Val
NM_001195803.2:c.1834C>G NP_001182732.1:p.Leu612Val
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