Canonical Allele Identifier: CA2322780275
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129553G= , CM000681.2:g.11129553G= GRCh38
NC_000019.9:g.11240229G= , CM000681.1:g.11240229G= GRCh37
NC_000019.8:g.11101229G= NCBI36
NG_009060.1:g.45173G= , LRG_274:g.45173G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2688G= ENSP00000252444.6:p.Trp896=
ENST00000559340.2:c.*499G= ENSP00000453696.2:n.*499G=
ENST00000560467.2:c.2310G= ENSP00000453513.2:p.Trp770=
ENST00000558518.6:c.2430G= MANE Select ENSP00000454071.1:p.Trp810=
ENST00000252444.9:c.2684G=
ENST00000455727.6:c.1926G= ENSP00000397829.2:p.Trp642=
ENST00000535915.5:c.2307G= ENSP00000440520.1:p.Trp769=
ENST00000545707.5:c.1896G= ENSP00000437639.1:p.Trp632=
ENST00000557933.5:c.2492G= ENSP00000453557.1:p.Gly831=
ENST00000558013.5:c.2430G= ENSP00000453346.1:p.Trp810=
ENST00000558518.5:c.2430G= ENSP00000454071.1:p.Trp810=
ENST00000560628.1:n.108+1899G=
NM_000527.4:c.2430G= , LRG_274t1:c.2430G= NP_000518.1:p.Trp810=
NM_001195798.1:c.2430G= NP_001182727.1:p.Trp810=
NM_001195799.1:c.2307G= NP_001182728.1:p.Trp769=
NM_001195800.1:c.1926G= NP_001182729.1:p.Trp642=
NM_001195803.1:c.1896G= NP_001182732.1:p.Trp632=
XM_011528010.1:c.2352G= XP_011526312.1:p.Trp784=
XM_011528011.1:c.2049G= XP_011526313.1:p.Trp683=
XR_244074.2:n.2440G=
XM_011528010.2:c.2352G= XP_011526312.1:p.Trp784=
XR_001753685.2:n.2764G=
XR_001753686.2:n.2407G=
NM_000527.5:c.2430G= MANE Select NP_000518.1:p.Trp810=
NM_001195798.2:c.2430G= NP_001182727.1:p.Trp810=
NM_001195799.2:c.2307G= NP_001182728.1:p.Trp769=
NM_001195800.2:c.1926G= NP_001182729.1:p.Trp642=
NM_001195803.2:c.1896G= NP_001182732.1:p.Trp632=