Canonical Allele Identifier: CA404089794
Gene: LDLR HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.11227623C>G (hg19) chr19:g.11116947C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11116947C>G , CM000681.2:g.11116947C>G GRCh38
NC_000019.9:g.11227623C>G , CM000681.1:g.11227623C>G GRCh37
NC_000019.8:g.11088623C>G NCBI36
NG_009060.1:g.32567C>G , LRG_274:g.32567C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2052C>G ENSP00000252444.6:p.Ile684Met
ENST00000559340.2:c.1705+735C>G ENSP00000453696.2:n.1705+735C>G
ENST00000560467.2:c.1674C>G ENSP00000453513.2:p.Ile558Met
ENST00000558518.6:c.1794C>G MANE Select ENSP00000454071.1:p.Ile598Met
ENST00000252444.9:c.2048C>G
ENST00000455727.6:c.1290C>G ENSP00000397829.2:p.Ile430Met
ENST00000535915.5:c.1671C>G ENSP00000440520.1:p.Ile557Met
ENST00000545707.5:c.1413C>G ENSP00000437639.1:p.Ile471Met
ENST00000557933.5:c.1794C>G ENSP00000453557.1:p.Ile598Met
ENST00000558013.5:c.1794C>G ENSP00000453346.1:p.Ile598Met
ENST00000558518.5:c.1794C>G ENSP00000454071.1:p.Ile598Met
ENST00000559340.1:c.426+735C>G
NM_000527.4:c.1794C>G , LRG_274t1:c.1794C>G NP_000518.1:p.Ile598Met
NM_001195798.1:c.1794C>G NP_001182727.1:p.Ile598Met
NM_001195799.1:c.1671C>G NP_001182728.1:p.Ile557Met
NM_001195800.1:c.1290C>G NP_001182729.1:p.Ile430Met
NM_001195803.1:c.1413C>G NP_001182732.1:p.Ile471Met
XM_011528010.1:c.1794C>G XP_011526312.1:p.Ile598Met
XM_011528011.1:c.1413C>G XP_011526313.1:p.Ile471Met
XR_244074.2:n.1855+735C>G
XM_011528010.2:c.1794C>G XP_011526312.1:p.Ile598Met
XR_001753685.2:n.1911C>G
XR_001753686.2:n.1822+735C>G
NM_000527.5:c.1794C>G MANE Select NP_000518.1:p.Ile598Met
NM_001195798.2:c.1794C>G NP_001182727.1:p.Ile598Met
NM_001195799.2:c.1671C>G NP_001182728.1:p.Ile557Met
NM_001195800.2:c.1290C>G NP_001182729.1:p.Ile430Met
NM_001195803.2:c.1413C>G NP_001182732.1:p.Ile471Met
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