Canonical Allele Identifier: CA10585681
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252113
ClinVar RCV Id: RCV000238546
dbSNP Id: rs879255073
MyVariant Identifiers: chr19:g.11230847T>C (hg19) chr19:g.11120171T>C (hg38)
PubMed: PMID:12417285 PMID:19318025
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120171T>C , CM000681.2:g.11120171T>C GRCh38
NC_000019.9:g.11230847T>C , CM000681.1:g.11230847T>C GRCh37
NC_000019.8:g.11091847T>C NCBI36
NG_009060.1:g.35791T>C , LRG_274:g.35791T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2183T>C ENSP00000252444.6:p.Leu728Ser
ENST00000559340.2:c.1785T>C ENSP00000453696.2:p.Val595=
ENST00000560467.2:c.1805T>C ENSP00000453513.2:p.Leu602Ser
ENST00000558518.6:c.1925T>C MANE Select ENSP00000454071.1:p.Leu642Ser
ENST00000252444.9:c.2179T>C
ENST00000455727.6:c.1421T>C ENSP00000397829.2:p.Leu474Ser
ENST00000535915.5:c.1802T>C ENSP00000440520.1:p.Leu601Ser
ENST00000545707.5:c.1544T>C ENSP00000437639.1:p.Leu515Ser
ENST00000557933.5:c.1925T>C ENSP00000453557.1:p.Leu642Ser
ENST00000558013.5:c.1925T>C ENSP00000453346.1:p.Leu642Ser
ENST00000558518.5:c.1925T>C ENSP00000454071.1:p.Leu642Ser
ENST00000559340.1:c.506T>C
NM_000527.4:c.1925T>C , LRG_274t1:c.1925T>C NP_000518.1:p.Leu642Ser
NM_001195798.1:c.1925T>C NP_001182727.1:p.Leu642Ser
NM_001195799.1:c.1802T>C NP_001182728.1:p.Leu601Ser
NM_001195800.1:c.1421T>C NP_001182729.1:p.Leu474Ser
NM_001195803.1:c.1544T>C NP_001182732.1:p.Leu515Ser
XM_011528010.1:c.1925T>C XP_011526312.1:p.Leu642Ser
XM_011528011.1:c.1544T>C XP_011526313.1:p.Leu515Ser
XR_244074.2:n.1935T>C
XM_011528010.2:c.1925T>C XP_011526312.1:p.Leu642Ser
XR_001753685.2:n.2042T>C
XR_001753686.2:n.1902T>C
NM_000527.5:c.1925T>C MANE Select NP_000518.1:p.Leu642Ser
NM_001195798.2:c.1925T>C NP_001182727.1:p.Leu642Ser
NM_001195799.2:c.1802T>C NP_001182728.1:p.Leu601Ser
NM_001195800.2:c.1421T>C NP_001182729.1:p.Leu474Ser
NM_001195803.2:c.1544T>C NP_001182732.1:p.Leu515Ser
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