Canonical Allele Identifier: CA404093254
Gene: LDLR HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.11230889A>G (hg19) chr19:g.11120213A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120213A>G , CM000681.2:g.11120213A>G GRCh38
NC_000019.9:g.11230889A>G , CM000681.1:g.11230889A>G GRCh37
NC_000019.8:g.11091889A>G NCBI36
NG_009060.1:g.35833A>G , LRG_274:g.35833A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2225A>G ENSP00000252444.6:p.His742Arg
ENST00000559340.2:c.*36A>G ENSP00000453696.2:n.*36A>G
ENST00000560467.2:c.1847A>G ENSP00000453513.2:p.His616Arg
ENST00000558518.6:c.1967A>G MANE Select ENSP00000454071.1:p.His656Arg
ENST00000252444.9:c.2221A>G
ENST00000455727.6:c.1463A>G ENSP00000397829.2:p.His488Arg
ENST00000535915.5:c.1844A>G ENSP00000440520.1:p.His615Arg
ENST00000545707.5:c.1586A>G ENSP00000437639.1:p.His529Arg
ENST00000557933.5:c.1967A>G ENSP00000453557.1:p.His656Arg
ENST00000558013.5:c.1967A>G ENSP00000453346.1:p.His656Arg
ENST00000558518.5:c.1967A>G ENSP00000454071.1:p.His656Arg
ENST00000559340.1:c.548A>G
NM_000527.4:c.1967A>G , LRG_274t1:c.1967A>G NP_000518.1:p.His656Arg
NM_001195798.1:c.1967A>G NP_001182727.1:p.His656Arg
NM_001195799.1:c.1844A>G NP_001182728.1:p.His615Arg
NM_001195800.1:c.1463A>G NP_001182729.1:p.His488Arg
NM_001195803.1:c.1586A>G NP_001182732.1:p.His529Arg
XM_011528010.1:c.1967A>G XP_011526312.1:p.His656Arg
XM_011528011.1:c.1586A>G XP_011526313.1:p.His529Arg
XR_244074.2:n.1977A>G
XM_011528010.2:c.1967A>G XP_011526312.1:p.His656Arg
XR_001753685.2:n.2084A>G
XR_001753686.2:n.1944A>G
NM_000527.5:c.1967A>G MANE Select NP_000518.1:p.His656Arg
NM_001195798.2:c.1967A>G NP_001182727.1:p.His656Arg
NM_001195799.2:c.1844A>G NP_001182728.1:p.His615Arg
NM_001195800.2:c.1463A>G NP_001182729.1:p.His488Arg
NM_001195803.2:c.1586A>G NP_001182732.1:p.His529Arg
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