Canonical Allele Identifier: CA404082770
Gene: LDLR HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.11221419C>G (hg19) chr19:g.11110743C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11110743C>G , CM000681.2:g.11110743C>G GRCh38
NC_000019.9:g.11221419C>G , CM000681.1:g.11221419C>G GRCh37
NC_000019.8:g.11082419C>G NCBI36
NG_009060.1:g.26363C>G , LRG_274:g.26363C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1290C>G ENSP00000252444.6:p.Phe430Leu
ENST00000559340.2:c.1032C>G ENSP00000453696.2:p.Phe344Leu
ENST00000560467.2:c.941-771C>G ENSP00000453513.2:n.941-771C>G
ENST00000558518.6:c.1032C>G MANE Select ENSP00000454071.1:p.Phe344Leu
ENST00000252444.9:c.1286C>G
ENST00000455727.6:c.528C>G ENSP00000397829.2:p.Phe176Leu
ENST00000535915.5:c.909C>G ENSP00000440520.1:p.Phe303Leu
ENST00000545707.5:c.651C>G ENSP00000437639.1:p.Phe217Leu
ENST00000557933.5:c.1032C>G ENSP00000453557.1:p.Phe344Leu
ENST00000558013.5:c.1032C>G ENSP00000453346.1:p.Phe344Leu
ENST00000558518.5:c.1032C>G ENSP00000454071.1:p.Phe344Leu
ENST00000560173.1:n.31C>G
ENST00000560467.1:c.541-771C>G
NM_000527.4:c.1032C>G , LRG_274t1:c.1032C>G NP_000518.1:p.Phe344Leu
NM_001195798.1:c.1032C>G NP_001182727.1:p.Phe344Leu
NM_001195799.1:c.909C>G NP_001182728.1:p.Phe303Leu
NM_001195800.1:c.528C>G NP_001182729.1:p.Phe176Leu
NM_001195803.1:c.651C>G NP_001182732.1:p.Phe217Leu
XM_011528010.1:c.1032C>G XP_011526312.1:p.Phe344Leu
XM_011528011.1:c.651C>G XP_011526313.1:p.Phe217Leu
XR_244074.2:n.1182C>G
XM_011528010.2:c.1032C>G XP_011526312.1:p.Phe344Leu
XR_001753685.2:n.1149C>G
XR_001753686.2:n.1149C>G
NM_000527.5:c.1032C>G MANE Select NP_000518.1:p.Phe344Leu
NM_001195798.2:c.1032C>G NP_001182727.1:p.Phe344Leu
NM_001195799.2:c.909C>G NP_001182728.1:p.Phe303Leu
NM_001195800.2:c.528C>G NP_001182729.1:p.Phe176Leu
NM_001195803.2:c.651C>G NP_001182732.1:p.Phe217Leu
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