Canonical Allele Identifier: CA305309073
Gene: LDLR HGNC NCBI

Linked Data

dbSNP Id: rs139647768
COSMIC: COSM107945

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129544C>T , CM000681.2:g.11129544C>T GRCh38
NC_000019.9:g.11240220C>T , CM000681.1:g.11240220C>T GRCh37
NC_000019.8:g.11101220C>T NCBI36
NG_009060.1:g.45164C>T , LRG_274:g.45164C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2679C>T ENSP00000252444.6:p.Phe893=
ENST00000559340.2:c.*490C>T ENSP00000453696.2:n.*490C>T
ENST00000560467.2:c.2301C>T ENSP00000453513.2:p.Phe767=
ENST00000558518.6:c.2421C>T MANE Select ENSP00000454071.1:p.Phe807=
ENST00000252444.9:c.2675C>T
ENST00000455727.6:c.1917C>T ENSP00000397829.2:p.Phe639=
ENST00000535915.5:c.2298C>T ENSP00000440520.1:p.Phe766=
ENST00000545707.5:c.1887C>T ENSP00000437639.1:p.Phe629=
ENST00000557933.5:c.2483C>T ENSP00000453557.1:p.Ser828Phe
ENST00000558013.5:c.2421C>T ENSP00000453346.1:p.Phe807=
ENST00000558518.5:c.2421C>T ENSP00000454071.1:p.Phe807=
ENST00000560628.1:n.108+1890C>T
NM_000527.4:c.2421C>T , LRG_274t1:c.2421C>T NP_000518.1:p.Phe807=
NM_001195798.1:c.2421C>T NP_001182727.1:p.Phe807=
NM_001195799.1:c.2298C>T NP_001182728.1:p.Phe766=
NM_001195800.1:c.1917C>T NP_001182729.1:p.Phe639=
NM_001195803.1:c.1887C>T NP_001182732.1:p.Phe629=
XM_011528010.1:c.2343C>T XP_011526312.1:p.Phe781=
XM_011528011.1:c.2040C>T XP_011526313.1:p.Phe680=
XR_244074.2:n.2431C>T
XM_011528010.2:c.2343C>T XP_011526312.1:p.Phe781=
XR_001753685.2:n.2755C>T
XR_001753686.2:n.2398C>T
NM_000527.5:c.2421C>T MANE Select NP_000518.1:p.Phe807=
NM_001195798.2:c.2421C>T NP_001182727.1:p.Phe807=
NM_001195799.2:c.2298C>T NP_001182728.1:p.Phe766=
NM_001195800.2:c.1917C>T NP_001182729.1:p.Phe639=
NM_001195803.2:c.1887C>T NP_001182732.1:p.Phe629=