Canonical Allele Identifier: CA2322767579
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105557T= , CM000681.2:g.11105557T= GRCh38
NC_000019.9:g.11216233T= , CM000681.1:g.11216233T= GRCh37
NC_000019.8:g.11077233T= NCBI36
NG_009060.1:g.21177T= , LRG_274:g.21177T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.909T= ENSP00000252444.6:p.Asp303=
ENST00000559340.2:c.651T= ENSP00000453696.2:p.Asp217=
ENST00000560467.2:c.651T= ENSP00000453513.2:p.Asp217=
ENST00000558518.6:c.651T= MANE Select ENSP00000454071.1:p.Asp217=
ENST00000252444.9:c.905T=
ENST00000455727.6:c.314-1835T= ENSP00000397829.2:n.314-1835T=
ENST00000535915.5:c.528T= ENSP00000440520.1:p.Asp176=
ENST00000545707.5:c.314-1008T= ENSP00000437639.1:n.314-1008T=
ENST00000557933.5:c.651T= ENSP00000453557.1:p.Asp217=
ENST00000558013.5:c.651T= ENSP00000453346.1:p.Asp217=
ENST00000558518.5:c.651T= ENSP00000454071.1:p.Asp217=
ENST00000560467.1:c.251T=
NM_000527.4:c.651T= , LRG_274t1:c.651T= NP_000518.1:p.Asp217=
NM_001195798.1:c.651T= NP_001182727.1:p.Asp217=
NM_001195799.1:c.528T= NP_001182728.1:p.Asp176=
NM_001195800.1:c.314-1835T= NP_001182729.1:n.314-1835T=
NM_001195803.1:c.314-1008T= NP_001182732.1:n.314-1008T=
XM_011528010.1:c.651T= XP_011526312.1:p.Asp217=
XM_011528011.1:c.314-1008T= XP_011526313.1:n.314-1008T=
XR_244074.2:n.801T=
XM_011528010.2:c.651T= XP_011526312.1:p.Asp217=
XR_001753685.2:n.768T=
XR_001753686.2:n.768T=
NM_000527.5:c.651T= MANE Select NP_000518.1:p.Asp217=
NM_001195798.2:c.651T= NP_001182727.1:p.Asp217=
NM_001195799.2:c.528T= NP_001182728.1:p.Asp176=
NM_001195800.2:c.314-1835T= NP_001182729.1:n.314-1835T=
NM_001195803.2:c.314-1008T= NP_001182732.1:n.314-1008T=