Canonical Allele Identifier: CA2322777234
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11123283C= , CM000681.2:g.11123283C= GRCh38
NC_000019.9:g.11233959C= , CM000681.1:g.11233959C= GRCh37
NC_000019.8:g.11094959C= NCBI36
NG_009060.1:g.38903C= , LRG_274:g.38903C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2508C= ENSP00000252444.6:p.Ser836=
ENST00000559340.2:c.*319C= ENSP00000453696.2:n.*319C=
ENST00000560467.2:c.2130C= ENSP00000453513.2:p.Ser710=
ENST00000558518.6:c.2250C= MANE Select ENSP00000454071.1:p.Ser750=
ENST00000252444.9:c.2504C=
ENST00000455727.6:c.1746C= ENSP00000397829.2:p.Ser582=
ENST00000535915.5:c.2127C= ENSP00000440520.1:p.Ser709=
ENST00000545707.5:c.1716C= ENSP00000437639.1:p.Ser572=
ENST00000557933.5:c.2250C= ENSP00000453557.1:p.Ser750=
ENST00000558013.5:c.2250C= ENSP00000453346.1:p.Ser750=
ENST00000558518.5:c.2250C= ENSP00000454071.1:p.Ser750=
NM_000527.4:c.2250C= , LRG_274t1:c.2250C= NP_000518.1:p.Ser750=
NM_001195798.1:c.2250C= NP_001182727.1:p.Ser750=
NM_001195799.1:c.2127C= NP_001182728.1:p.Ser709=
NM_001195800.1:c.1746C= NP_001182729.1:p.Ser582=
NM_001195803.1:c.1716C= NP_001182732.1:p.Ser572=
XM_011528010.1:c.2250C= XP_011526312.1:p.Ser750=
XM_011528011.1:c.1869C= XP_011526313.1:p.Ser623=
XR_244074.2:n.2260C=
XM_011528010.2:c.2250C= XP_011526312.1:p.Ser750=
XR_001753685.2:n.2584C=
XR_001753686.2:n.2227C=
NM_000527.5:c.2250C= MANE Select NP_000518.1:p.Ser750=
NM_001195798.2:c.2250C= NP_001182727.1:p.Ser750=
NM_001195799.2:c.2127C= NP_001182728.1:p.Ser709=
NM_001195800.2:c.1746C= NP_001182729.1:p.Ser582=
NM_001195803.2:c.1716C= NP_001182732.1:p.Ser572=