Canonical Allele Identifier: CA404093109
Gene: LDLR HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.11230870G>C (hg19) chr19:g.11120194G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120194G>C , CM000681.2:g.11120194G>C GRCh38
NC_000019.9:g.11230870G>C , CM000681.1:g.11230870G>C GRCh37
NC_000019.8:g.11091870G>C NCBI36
NG_009060.1:g.35814G>C , LRG_274:g.35814G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2206G>C ENSP00000252444.6:p.Glu736Gln
ENST00000559340.2:c.*17G>C ENSP00000453696.2:n.*17G>C
ENST00000560467.2:c.1828G>C ENSP00000453513.2:p.Glu610Gln
ENST00000558518.6:c.1948G>C MANE Select ENSP00000454071.1:p.Glu650Gln
ENST00000252444.9:c.2202G>C
ENST00000455727.6:c.1444G>C ENSP00000397829.2:p.Glu482Gln
ENST00000535915.5:c.1825G>C ENSP00000440520.1:p.Glu609Gln
ENST00000545707.5:c.1567G>C ENSP00000437639.1:p.Glu523Gln
ENST00000557933.5:c.1948G>C ENSP00000453557.1:p.Glu650Gln
ENST00000558013.5:c.1948G>C ENSP00000453346.1:p.Glu650Gln
ENST00000558518.5:c.1948G>C ENSP00000454071.1:p.Glu650Gln
ENST00000559340.1:c.529G>C
NM_000527.4:c.1948G>C , LRG_274t1:c.1948G>C NP_000518.1:p.Glu650Gln
NM_001195798.1:c.1948G>C NP_001182727.1:p.Glu650Gln
NM_001195799.1:c.1825G>C NP_001182728.1:p.Glu609Gln
NM_001195800.1:c.1444G>C NP_001182729.1:p.Glu482Gln
NM_001195803.1:c.1567G>C NP_001182732.1:p.Glu523Gln
XM_011528010.1:c.1948G>C XP_011526312.1:p.Glu650Gln
XM_011528011.1:c.1567G>C XP_011526313.1:p.Glu523Gln
XR_244074.2:n.1958G>C
XM_011528010.2:c.1948G>C XP_011526312.1:p.Glu650Gln
XR_001753685.2:n.2065G>C
XR_001753686.2:n.1925G>C
NM_000527.5:c.1948G>C MANE Select NP_000518.1:p.Glu650Gln
NM_001195798.2:c.1948G>C NP_001182727.1:p.Glu650Gln
NM_001195799.2:c.1825G>C NP_001182728.1:p.Glu609Gln
NM_001195800.2:c.1444G>C NP_001182729.1:p.Glu482Gln
NM_001195803.2:c.1567G>C NP_001182732.1:p.Glu523Gln
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