Canonical Allele Identifier: CA404081055
Gene: LDLR HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.11218172G>C (hg19) chr19:g.11107496G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11107496G>C , CM000681.2:g.11107496G>C GRCh38
NC_000019.9:g.11218172G>C , CM000681.1:g.11218172G>C GRCh37
NC_000019.8:g.11079172G>C NCBI36
NG_009060.1:g.23116G>C , LRG_274:g.23116G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1180G>C ENSP00000252444.6:p.Glu394Gln
ENST00000559340.2:c.922G>C ENSP00000453696.2:p.Glu308Gln
ENST00000560467.2:c.922G>C ENSP00000453513.2:p.Glu308Gln
ENST00000558518.6:c.922G>C MANE Select ENSP00000454071.1:p.Glu308Gln
ENST00000252444.9:c.1176G>C
ENST00000455727.6:c.418G>C ENSP00000397829.2:p.Glu140Gln
ENST00000535915.5:c.799G>C ENSP00000440520.1:p.Glu267Gln
ENST00000545707.5:c.541G>C ENSP00000437639.1:p.Glu181Gln
ENST00000557933.5:c.922G>C ENSP00000453557.1:p.Glu308Gln
ENST00000558013.5:c.922G>C ENSP00000453346.1:p.Glu308Gln
ENST00000558518.5:c.922G>C ENSP00000454071.1:p.Glu308Gln
ENST00000558528.1:n.437G>C
ENST00000560467.1:c.522G>C
NM_000527.4:c.922G>C , LRG_274t1:c.922G>C NP_000518.1:p.Glu308Gln
NM_001195798.1:c.922G>C NP_001182727.1:p.Glu308Gln
NM_001195799.1:c.799G>C NP_001182728.1:p.Glu267Gln
NM_001195800.1:c.418G>C NP_001182729.1:p.Glu140Gln
NM_001195803.1:c.541G>C NP_001182732.1:p.Glu181Gln
XM_011528010.1:c.922G>C XP_011526312.1:p.Glu308Gln
XM_011528011.1:c.541G>C XP_011526313.1:p.Glu181Gln
XR_244074.2:n.1072G>C
XM_011528010.2:c.922G>C XP_011526312.1:p.Glu308Gln
XR_001753685.2:n.1039G>C
XR_001753686.2:n.1039G>C
NM_000527.5:c.922G>C MANE Select NP_000518.1:p.Glu308Gln
NM_001195798.2:c.922G>C NP_001182727.1:p.Glu308Gln
NM_001195799.2:c.799G>C NP_001182728.1:p.Glu267Gln
NM_001195800.2:c.418G>C NP_001182729.1:p.Glu140Gln
NM_001195803.2:c.541G>C NP_001182732.1:p.Glu181Gln
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