Canonical Allele Identifier: CA404086344
Gene: LDLR HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.11224335C>A (hg19) chr19:g.11113659C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113659C>A , CM000681.2:g.11113659C>A GRCh38
NC_000019.9:g.11224335C>A , CM000681.1:g.11224335C>A GRCh37
NC_000019.8:g.11085335C>A NCBI36
NG_009060.1:g.29279C>A , LRG_274:g.29279C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1741C>A ENSP00000252444.6:p.Leu581Met
ENST00000559340.2:c.1483C>A ENSP00000453696.2:p.Leu495Met
ENST00000560467.2:c.1363C>A ENSP00000453513.2:p.Leu455Met
ENST00000558518.6:c.1483C>A MANE Select ENSP00000454071.1:p.Leu495Met
ENST00000252444.9:c.1737C>A
ENST00000455727.6:c.979C>A ENSP00000397829.2:p.Leu327Met
ENST00000535915.5:c.1360C>A ENSP00000440520.1:p.Leu454Met
ENST00000545707.5:c.1102C>A ENSP00000437639.1:p.Leu368Met
ENST00000557933.5:c.1483C>A ENSP00000453557.1:p.Leu495Met
ENST00000558013.5:c.1483C>A ENSP00000453346.1:p.Leu495Met
ENST00000558518.5:c.1483C>A ENSP00000454071.1:p.Leu495Met
ENST00000559340.1:c.204C>A
NM_000527.4:c.1483C>A , LRG_274t1:c.1483C>A NP_000518.1:p.Leu495Met
NM_001195798.1:c.1483C>A NP_001182727.1:p.Leu495Met
NM_001195799.1:c.1360C>A NP_001182728.1:p.Leu454Met
NM_001195800.1:c.979C>A NP_001182729.1:p.Leu327Met
NM_001195803.1:c.1102C>A NP_001182732.1:p.Leu368Met
XM_011528010.1:c.1483C>A XP_011526312.1:p.Leu495Met
XM_011528011.1:c.1102C>A XP_011526313.1:p.Leu368Met
XR_244074.2:n.1633C>A
XM_011528010.2:c.1483C>A XP_011526312.1:p.Leu495Met
XR_001753685.2:n.1600C>A
XR_001753686.2:n.1600C>A
NM_000527.5:c.1483C>A MANE Select NP_000518.1:p.Leu495Met
NM_001195798.2:c.1483C>A NP_001182727.1:p.Leu495Met
NM_001195799.2:c.1360C>A NP_001182728.1:p.Leu454Met
NM_001195800.2:c.979C>A NP_001182729.1:p.Leu327Met
NM_001195803.2:c.1102C>A NP_001182732.1:p.Leu368Met
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