Canonical Allele Identifier: CA10585191
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251521
ClinVar RCV Id: RCV000237618
dbSNP Id: rs757252110
MyVariant Identifiers: chr19:g.11218165G>C (hg19) chr19:g.11107489G>C (hg38)
ERepo: CA10585191/MONDO:0007750/013
PubMed: PMID:16250003
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11107489G>C , CM000681.2:g.11107489G>C GRCh38
NC_000019.9:g.11218165G>C , CM000681.1:g.11218165G>C GRCh37
NC_000019.8:g.11079165G>C NCBI36
NG_009060.1:g.23109G>C , LRG_274:g.23109G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1173G>C ENSP00000252444.6:p.Trp391Cys
ENST00000559340.2:c.915G>C ENSP00000453696.2:p.Trp305Cys
ENST00000560467.2:c.915G>C ENSP00000453513.2:p.Trp305Cys
ENST00000558518.6:c.915G>C MANE Select ENSP00000454071.1:p.Trp305Cys
ENST00000252444.9:c.1169G>C
ENST00000455727.6:c.411G>C ENSP00000397829.2:p.Trp137Cys
ENST00000535915.5:c.792G>C ENSP00000440520.1:p.Trp264Cys
ENST00000545707.5:c.534G>C ENSP00000437639.1:p.Trp178Cys
ENST00000557933.5:c.915G>C ENSP00000453557.1:p.Trp305Cys
ENST00000558013.5:c.915G>C ENSP00000453346.1:p.Trp305Cys
ENST00000558518.5:c.915G>C ENSP00000454071.1:p.Trp305Cys
ENST00000558528.1:n.430G>C
ENST00000560467.1:c.515G>C
NM_000527.4:c.915G>C , LRG_274t1:c.915G>C NP_000518.1:p.Trp305Cys
NM_001195798.1:c.915G>C NP_001182727.1:p.Trp305Cys
NM_001195799.1:c.792G>C NP_001182728.1:p.Trp264Cys
NM_001195800.1:c.411G>C NP_001182729.1:p.Trp137Cys
NM_001195803.1:c.534G>C NP_001182732.1:p.Trp178Cys
XM_011528010.1:c.915G>C XP_011526312.1:p.Trp305Cys
XM_011528011.1:c.534G>C XP_011526313.1:p.Trp178Cys
XR_244074.2:n.1065G>C
XM_011528010.2:c.915G>C XP_011526312.1:p.Trp305Cys
XR_001753685.2:n.1032G>C
XR_001753686.2:n.1032G>C
NM_000527.5:c.915G>C MANE Select NP_000518.1:p.Trp305Cys
NM_001195798.2:c.915G>C NP_001182727.1:p.Trp305Cys
NM_001195799.2:c.792G>C NP_001182728.1:p.Trp264Cys
NM_001195800.2:c.411G>C NP_001182729.1:p.Trp137Cys
NM_001195803.2:c.534G>C NP_001182732.1:p.Trp178Cys
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