Canonical Allele Identifier: CA305298394
Gene: LDLR HGNC NCBI

Linked Data

dbSNP Id: rs143992984
MyVariant Identifiers: chr19:g.11217352G>T (hg19) chr19:g.11106676G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11106676G>T , CM000681.2:g.11106676G>T GRCh38
NC_000019.9:g.11217352G>T , CM000681.1:g.11217352G>T GRCh37
NC_000019.8:g.11078352G>T NCBI36
NG_009060.1:g.22296G>T , LRG_274:g.22296G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1064G>T ENSP00000252444.6:p.Gly355Val
ENST00000559340.2:c.806G>T ENSP00000453696.2:p.Gly269Val
ENST00000560467.2:c.806G>T ENSP00000453513.2:p.Gly269Val
ENST00000558518.6:c.806G>T MANE Select ENSP00000454071.1:p.Gly269Val
ENST00000252444.9:c.1060G>T
ENST00000455727.6:c.314-716G>T ENSP00000397829.2:n.314-716G>T
ENST00000535915.5:c.683G>T ENSP00000440520.1:p.Gly228Val
ENST00000545707.5:c.425G>T ENSP00000437639.1:p.Gly142Val
ENST00000557933.5:c.806G>T ENSP00000453557.1:p.Gly269Val
ENST00000558013.5:c.806G>T ENSP00000453346.1:p.Gly269Val
ENST00000558518.5:c.806G>T ENSP00000454071.1:p.Gly269Val
ENST00000558528.1:n.321G>T
ENST00000560467.1:c.406G>T
NM_000527.4:c.806G>T , LRG_274t1:c.806G>T NP_000518.1:p.Gly269Val
NM_001195798.1:c.806G>T NP_001182727.1:p.Gly269Val
NM_001195799.1:c.683G>T NP_001182728.1:p.Gly228Val
NM_001195800.1:c.314-716G>T NP_001182729.1:n.314-716G>T
NM_001195803.1:c.425G>T NP_001182732.1:p.Gly142Val
XM_011528010.1:c.806G>T XP_011526312.1:p.Gly269Val
XM_011528011.1:c.425G>T XP_011526313.1:p.Gly142Val
XR_244074.2:n.956G>T
XM_011528010.2:c.806G>T XP_011526312.1:p.Gly269Val
XR_001753685.2:n.923G>T
XR_001753686.2:n.923G>T
NM_000527.5:c.806G>T MANE Select NP_000518.1:p.Gly269Val
NM_001195798.2:c.806G>T NP_001182727.1:p.Gly269Val
NM_001195799.2:c.683G>T NP_001182728.1:p.Gly228Val
NM_001195800.2:c.314-716G>T NP_001182729.1:n.314-716G>T
NM_001195803.2:c.425G>T NP_001182732.1:p.Gly142Val
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