Canonical Allele Identifier: CA404082741
Gene: LDLR HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.11221405T>C (hg19) chr19:g.11110729T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11110729T>C , CM000681.2:g.11110729T>C GRCh38
NC_000019.9:g.11221405T>C , CM000681.1:g.11221405T>C GRCh37
NC_000019.8:g.11082405T>C NCBI36
NG_009060.1:g.26349T>C , LRG_274:g.26349T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1276T>C ENSP00000252444.6:p.Cys426Arg
ENST00000559340.2:c.1018T>C ENSP00000453696.2:p.Cys340Arg
ENST00000560467.2:c.941-785T>C ENSP00000453513.2:n.941-785T>C
ENST00000558518.6:c.1018T>C MANE Select ENSP00000454071.1:p.Cys340Arg
ENST00000252444.9:c.1272T>C
ENST00000455727.6:c.514T>C ENSP00000397829.2:p.Cys172Arg
ENST00000535915.5:c.895T>C ENSP00000440520.1:p.Cys299Arg
ENST00000545707.5:c.637T>C ENSP00000437639.1:p.Cys213Arg
ENST00000557933.5:c.1018T>C ENSP00000453557.1:p.Cys340Arg
ENST00000558013.5:c.1018T>C ENSP00000453346.1:p.Cys340Arg
ENST00000558518.5:c.1018T>C ENSP00000454071.1:p.Cys340Arg
ENST00000560173.1:n.17T>C
ENST00000560467.1:c.541-785T>C
NM_000527.4:c.1018T>C , LRG_274t1:c.1018T>C NP_000518.1:p.Cys340Arg
NM_001195798.1:c.1018T>C NP_001182727.1:p.Cys340Arg
NM_001195799.1:c.895T>C NP_001182728.1:p.Cys299Arg
NM_001195800.1:c.514T>C NP_001182729.1:p.Cys172Arg
NM_001195803.1:c.637T>C NP_001182732.1:p.Cys213Arg
XM_011528010.1:c.1018T>C XP_011526312.1:p.Cys340Arg
XM_011528011.1:c.637T>C XP_011526313.1:p.Cys213Arg
XR_244074.2:n.1168T>C
XM_011528010.2:c.1018T>C XP_011526312.1:p.Cys340Arg
XR_001753685.2:n.1135T>C
XR_001753686.2:n.1135T>C
NM_000527.5:c.1018T>C MANE Select NP_000518.1:p.Cys340Arg
NM_001195798.2:c.1018T>C NP_001182727.1:p.Cys340Arg
NM_001195799.2:c.895T>C NP_001182728.1:p.Cys299Arg
NM_001195800.2:c.514T>C NP_001182729.1:p.Cys172Arg
NM_001195803.2:c.637T>C NP_001182732.1:p.Cys213Arg
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