Canonical Allele Identifier: CA404085585
Gene: LDLR HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.11224218C>G (hg19) chr19:g.11113542C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113542C>G , CM000681.2:g.11113542C>G GRCh38
NC_000019.9:g.11224218C>G , CM000681.1:g.11224218C>G GRCh37
NC_000019.8:g.11085218C>G NCBI36
NG_009060.1:g.29162C>G , LRG_274:g.29162C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1624C>G ENSP00000252444.6:p.Leu542Val
ENST00000559340.2:c.1366C>G ENSP00000453696.2:p.Leu456Val
ENST00000560467.2:c.1246C>G ENSP00000453513.2:p.Leu416Val
ENST00000558518.6:c.1366C>G MANE Select ENSP00000454071.1:p.Leu456Val
ENST00000252444.9:c.1620C>G
ENST00000455727.6:c.862C>G ENSP00000397829.2:p.Leu288Val
ENST00000535915.5:c.1243C>G ENSP00000440520.1:p.Leu415Val
ENST00000545707.5:c.985C>G ENSP00000437639.1:p.Leu329Val
ENST00000557933.5:c.1366C>G ENSP00000453557.1:p.Leu456Val
ENST00000558013.5:c.1366C>G ENSP00000453346.1:p.Leu456Val
ENST00000558518.5:c.1366C>G ENSP00000454071.1:p.Leu456Val
ENST00000559340.1:c.87C>G
ENST00000560467.1:c.846C>G
NM_000527.4:c.1366C>G , LRG_274t1:c.1366C>G NP_000518.1:p.Leu456Val
NM_001195798.1:c.1366C>G NP_001182727.1:p.Leu456Val
NM_001195799.1:c.1243C>G NP_001182728.1:p.Leu415Val
NM_001195800.1:c.862C>G NP_001182729.1:p.Leu288Val
NM_001195803.1:c.985C>G NP_001182732.1:p.Leu329Val
XM_011528010.1:c.1366C>G XP_011526312.1:p.Leu456Val
XM_011528011.1:c.985C>G XP_011526313.1:p.Leu329Val
XR_244074.2:n.1516C>G
XM_011528010.2:c.1366C>G XP_011526312.1:p.Leu456Val
XR_001753685.2:n.1483C>G
XR_001753686.2:n.1483C>G
NM_000527.5:c.1366C>G MANE Select NP_000518.1:p.Leu456Val
NM_001195798.2:c.1366C>G NP_001182727.1:p.Leu456Val
NM_001195799.2:c.1243C>G NP_001182728.1:p.Leu415Val
NM_001195800.2:c.862C>G NP_001182729.1:p.Leu288Val
NM_001195803.2:c.985C>G NP_001182732.1:p.Leu329Val
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