Canonical Allele Identifier: CA2322777235
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11123284C= , CM000681.2:g.11123284C= GRCh38
NC_000019.9:g.11233960C= , CM000681.1:g.11233960C= GRCh37
NC_000019.8:g.11094960C= NCBI36
NG_009060.1:g.38904C= , LRG_274:g.38904C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2509C= ENSP00000252444.6:p.Arg837=
ENST00000559340.2:c.*320C= ENSP00000453696.2:n.*320C=
ENST00000560467.2:c.2131C= ENSP00000453513.2:p.Arg711=
ENST00000558518.6:c.2251C= MANE Select ENSP00000454071.1:p.Arg751=
ENST00000252444.9:c.2505C=
ENST00000455727.6:c.1747C= ENSP00000397829.2:p.Arg583=
ENST00000535915.5:c.2128C= ENSP00000440520.1:p.Arg710=
ENST00000545707.5:c.1717C= ENSP00000437639.1:p.Arg573=
ENST00000557933.5:c.2251C= ENSP00000453557.1:p.Arg751=
ENST00000558013.5:c.2251C= ENSP00000453346.1:p.Arg751=
ENST00000558518.5:c.2251C= ENSP00000454071.1:p.Arg751=
NM_000527.4:c.2251C= , LRG_274t1:c.2251C= NP_000518.1:p.Arg751=
NM_001195798.1:c.2251C= NP_001182727.1:p.Arg751=
NM_001195799.1:c.2128C= NP_001182728.1:p.Arg710=
NM_001195800.1:c.1747C= NP_001182729.1:p.Arg583=
NM_001195803.1:c.1717C= NP_001182732.1:p.Arg573=
XM_011528010.1:c.2251C= XP_011526312.1:p.Arg751=
XM_011528011.1:c.1870C= XP_011526313.1:p.Arg624=
XR_244074.2:n.2261C=
XM_011528010.2:c.2251C= XP_011526312.1:p.Arg751=
XR_001753685.2:n.2585C=
XR_001753686.2:n.2228C=
NM_000527.5:c.2251C= MANE Select NP_000518.1:p.Arg751=
NM_001195798.2:c.2251C= NP_001182727.1:p.Arg751=
NM_001195799.2:c.2128C= NP_001182728.1:p.Arg710=
NM_001195800.2:c.1747C= NP_001182729.1:p.Arg583=
NM_001195803.2:c.1717C= NP_001182732.1:p.Arg573=