Canonical Allele Identifier: CA2322780256
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129525T= , CM000681.2:g.11129525T= GRCh38
NC_000019.9:g.11240201T= , CM000681.1:g.11240201T= GRCh37
NC_000019.8:g.11101201T= NCBI36
NG_009060.1:g.45145T= , LRG_274:g.45145T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2660T= ENSP00000252444.6:p.Phe887=
ENST00000559340.2:c.*471T= ENSP00000453696.2:n.*471T=
ENST00000560467.2:c.2282T= ENSP00000453513.2:p.Phe761=
ENST00000558518.6:c.2402T= MANE Select ENSP00000454071.1:p.Phe801=
ENST00000252444.9:c.2656T=
ENST00000455727.6:c.1898T= ENSP00000397829.2:p.Phe633=
ENST00000535915.5:c.2279T= ENSP00000440520.1:p.Phe760=
ENST00000545707.5:c.1868T= ENSP00000437639.1:p.Phe623=
ENST00000557933.5:c.2464T= ENSP00000453557.1:p.Ser822=
ENST00000558013.5:c.2402T= ENSP00000453346.1:p.Phe801=
ENST00000558518.5:c.2402T= ENSP00000454071.1:p.Phe801=
ENST00000560628.1:n.108+1871T=
NM_000527.4:c.2402T= , LRG_274t1:c.2402T= NP_000518.1:p.Phe801=
NM_001195798.1:c.2402T= NP_001182727.1:p.Phe801=
NM_001195799.1:c.2279T= NP_001182728.1:p.Phe760=
NM_001195800.1:c.1898T= NP_001182729.1:p.Phe633=
NM_001195803.1:c.1868T= NP_001182732.1:p.Phe623=
XM_011528010.1:c.2324T= XP_011526312.1:p.Phe775=
XM_011528011.1:c.2021T= XP_011526313.1:p.Phe674=
XR_244074.2:n.2412T=
XM_011528010.2:c.2324T= XP_011526312.1:p.Phe775=
XR_001753685.2:n.2736T=
XR_001753686.2:n.2379T=
NM_000527.5:c.2402T= MANE Select NP_000518.1:p.Phe801=
NM_001195798.2:c.2402T= NP_001182727.1:p.Phe801=
NM_001195799.2:c.2279T= NP_001182728.1:p.Phe760=
NM_001195800.2:c.1898T= NP_001182729.1:p.Phe633=
NM_001195803.2:c.1868T= NP_001182732.1:p.Phe623=