Canonical Allele Identifier: CA2322772117
Gene: LDLR HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113868C= , CM000681.2:g.11113868C= GRCh38
NC_000019.9:g.11224544C= , CM000681.1:g.11224544C= GRCh37
NC_000019.8:g.11085544C= NCBI36
NG_009060.1:g.29488C= , LRG_274:g.29488C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1844+106C= ENSP00000252444.6:n.1844+106C=
ENST00000559340.2:c.1586+106C= ENSP00000453696.2:n.1586+106C=
ENST00000560467.2:c.1466+106C= ENSP00000453513.2:n.1466+106C=
ENST00000558518.6:c.1586+106C= MANE Select ENSP00000454071.1:n.1586+106C=
ENST00000252444.9:c.1840+106C=
ENST00000455727.6:c.1082+106C= ENSP00000397829.2:n.1082+106C=
ENST00000535915.5:c.1463+106C= ENSP00000440520.1:n.1463+106C=
ENST00000545707.5:c.1205+106C= ENSP00000437639.1:n.1205+106C=
ENST00000557933.5:c.1586+106C= ENSP00000453557.1:n.1586+106C=
ENST00000558013.5:c.1586+106C= ENSP00000453346.1:n.1586+106C=
ENST00000558518.5:c.1586+106C= ENSP00000454071.1:n.1586+106C=
ENST00000559340.1:c.307+106C=
NM_000527.4:c.1586+106C= , LRG_274t1:c.1586+106C= NP_000518.1:n.1586+106C=
NM_001195798.1:c.1586+106C= NP_001182727.1:n.1586+106C=
NM_001195799.1:c.1463+106C= NP_001182728.1:n.1463+106C=
NM_001195800.1:c.1082+106C= NP_001182729.1:n.1082+106C=
NM_001195803.1:c.1205+106C= NP_001182732.1:n.1205+106C=
XM_011528010.1:c.1586+106C= XP_011526312.1:n.1586+106C=
XM_011528011.1:c.1205+106C= XP_011526313.1:n.1205+106C=
XR_244074.2:n.1736+106C=
XM_011528010.2:c.1586+106C= XP_011526312.1:n.1586+106C=
XR_001753685.2:n.1703+106C=
XR_001753686.2:n.1703+106C=
NM_000527.5:c.1586+106C= MANE Select NP_000518.1:n.1586+106C=
NM_001195798.2:c.1586+106C= NP_001182727.1:n.1586+106C=
NM_001195799.2:c.1463+106C= NP_001182728.1:n.1463+106C=
NM_001195800.2:c.1082+106C= NP_001182729.1:n.1082+106C=
NM_001195803.2:c.1205+106C= NP_001182732.1:n.1205+106C=
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