Canonical Allele Identifier: CA2322775355
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120113A= , CM000681.2:g.11120113A= GRCh38
NC_000019.9:g.11230789A= , CM000681.1:g.11230789A= GRCh37
NC_000019.8:g.11091789A= NCBI36
NG_009060.1:g.35733A= , LRG_274:g.35733A=

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.2125A= ENSP00000252444.6:p.Ile709=
ENST00000559340.2:c.1727A= ENSP00000453696.2:p.Tyr576=
ENST00000560467.2:c.1747A= ENSP00000453513.2:p.Ile583=
ENST00000558518.6:c.1867A= MANE Select ENSP00000454071.1:p.Ile623=
ENST00000252444.9:c.2121A=
ENST00000455727.6:c.1363A= ENSP00000397829.2:p.Ile455=
ENST00000535915.5:c.1744A= ENSP00000440520.1:p.Ile582=
ENST00000545707.5:c.1486A= ENSP00000437639.1:p.Ile496=
ENST00000557933.5:c.1867A= ENSP00000453557.1:p.Ile623=
ENST00000558013.5:c.1867A= ENSP00000453346.1:p.Ile623=
ENST00000558518.5:c.1867A= ENSP00000454071.1:p.Ile623=
ENST00000559340.1:c.448A=
NM_000527.4:c.1867A= , LRG_274t1:c.1867A= NP_000518.1:p.Ile623=
NM_001195798.1:c.1867A= NP_001182727.1:p.Ile623=
NM_001195799.1:c.1744A= NP_001182728.1:p.Ile582=
NM_001195800.1:c.1363A= NP_001182729.1:p.Ile455=
NM_001195803.1:c.1486A= NP_001182732.1:p.Ile496=
XM_011528010.1:c.1867A= XP_011526312.1:p.Ile623=
XM_011528011.1:c.1486A= XP_011526313.1:p.Ile496=
XR_244074.2:n.1877A=
XM_011528010.2:c.1867A= XP_011526312.1:p.Ile623=
XR_001753685.2:n.1984A=
XR_001753686.2:n.1844A=
NM_000527.5:c.1867A= MANE Select NP_000518.1:p.Ile623=
NM_001195798.2:c.1867A= NP_001182727.1:p.Ile623=
NM_001195799.2:c.1744A= NP_001182728.1:p.Ile582=
NM_001195800.2:c.1363A= NP_001182729.1:p.Ile455=
NM_001195803.2:c.1486A= NP_001182732.1:p.Ile496=