Canonical Allele Identifier: CA404096790
Gene: LDLR HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.11238725A>C (hg19) chr19:g.11128049A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11128049A>C , CM000681.2:g.11128049A>C GRCh38
NC_000019.9:g.11238725A>C , CM000681.1:g.11238725A>C GRCh37
NC_000019.8:g.11099725A>C NCBI36
NG_009060.1:g.43669A>C , LRG_274:g.43669A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2611A>C ENSP00000252444.6:p.Ser871Arg
ENST00000559340.2:c.*422A>C ENSP00000453696.2:n.*422A>C
ENST00000560467.2:c.2233A>C ENSP00000453513.2:p.Ser745Arg
ENST00000558518.6:c.2353A>C MANE Select ENSP00000454071.1:p.Ser785Arg
ENST00000252444.9:c.2607A>C
ENST00000455727.6:c.1849A>C ENSP00000397829.2:p.Ser617Arg
ENST00000535915.5:c.2230A>C ENSP00000440520.1:p.Ser744Arg
ENST00000545707.5:c.1819A>C ENSP00000437639.1:p.Ser607Arg
ENST00000557933.5:c.2353A>C ENSP00000453557.1:p.Ser785Arg
ENST00000558013.5:c.2353A>C ENSP00000453346.1:p.Ser785Arg
ENST00000558518.5:c.2353A>C ENSP00000454071.1:p.Ser785Arg
ENST00000560628.1:n.108+395A>C
NM_000527.4:c.2353A>C , LRG_274t1:c.2353A>C NP_000518.1:p.Ser785Arg
NM_001195798.1:c.2353A>C NP_001182727.1:p.Ser785Arg
NM_001195799.1:c.2230A>C NP_001182728.1:p.Ser744Arg
NM_001195800.1:c.1849A>C NP_001182729.1:p.Ser617Arg
NM_001195803.1:c.1819A>C NP_001182732.1:p.Ser607Arg
XM_011528010.1:c.2312-1464A>C XP_011526312.1:n.2312-1464A>C
XM_011528011.1:c.1972A>C XP_011526313.1:p.Ser658Arg
XR_244074.2:n.2363A>C
XM_011528010.2:c.2312-1464A>C XP_011526312.1:n.2312-1464A>C
XR_001753685.2:n.2687A>C
XR_001753686.2:n.2330A>C
NM_000527.5:c.2353A>C MANE Select NP_000518.1:p.Ser785Arg
NM_001195798.2:c.2353A>C NP_001182727.1:p.Ser785Arg
NM_001195799.2:c.2230A>C NP_001182728.1:p.Ser744Arg
NM_001195800.2:c.1849A>C NP_001182729.1:p.Ser617Arg
NM_001195803.2:c.1819A>C NP_001182732.1:p.Ser607Arg
Search 100 bp 5'
Search 100 bp 3'