Canonical Allele Identifier: CA305301758
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 438325
dbSNP Id: rs934496989

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11116892C>T , CM000681.2:g.11116892C>T GRCh38
NC_000019.9:g.11227568C>T , CM000681.1:g.11227568C>T GRCh37
NC_000019.8:g.11088568C>T NCBI36
NG_009060.1:g.32512C>T , LRG_274:g.32512C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1997C>T ENSP00000252444.6:p.Ser666Phe
ENST00000559340.2:c.1705+680C>T ENSP00000453696.2:n.1705+680C>T
ENST00000560467.2:c.1619C>T ENSP00000453513.2:p.Ser540Phe
ENST00000558518.6:c.1739C>T MANE Select ENSP00000454071.1:p.Ser580Phe
ENST00000252444.9:c.1993C>T
ENST00000455727.6:c.1235C>T ENSP00000397829.2:p.Ser412Phe
ENST00000535915.5:c.1616C>T ENSP00000440520.1:p.Ser539Phe
ENST00000545707.5:c.1358C>T ENSP00000437639.1:p.Ser453Phe
ENST00000557933.5:c.1739C>T ENSP00000453557.1:p.Ser580Phe
ENST00000558013.5:c.1739C>T ENSP00000453346.1:p.Ser580Phe
ENST00000558518.5:c.1739C>T ENSP00000454071.1:p.Ser580Phe
ENST00000559340.1:c.426+680C>T
NM_000527.4:c.1739C>T , LRG_274t1:c.1739C>T NP_000518.1:p.Ser580Phe
NM_001195798.1:c.1739C>T NP_001182727.1:p.Ser580Phe
NM_001195799.1:c.1616C>T NP_001182728.1:p.Ser539Phe
NM_001195800.1:c.1235C>T NP_001182729.1:p.Ser412Phe
NM_001195803.1:c.1358C>T NP_001182732.1:p.Ser453Phe
XM_011528010.1:c.1739C>T XP_011526312.1:p.Ser580Phe
XM_011528011.1:c.1358C>T XP_011526313.1:p.Ser453Phe
XR_244074.2:n.1855+680C>T
XM_011528010.2:c.1739C>T XP_011526312.1:p.Ser580Phe
XR_001753685.2:n.1856C>T
XR_001753686.2:n.1822+680C>T
NM_000527.5:c.1739C>T MANE Select NP_000518.1:p.Ser580Phe
NM_001195798.2:c.1739C>T NP_001182727.1:p.Ser580Phe
NM_001195799.2:c.1616C>T NP_001182728.1:p.Ser539Phe
NM_001195800.2:c.1235C>T NP_001182729.1:p.Ser412Phe
NM_001195803.2:c.1358C>T NP_001182732.1:p.Ser453Phe