Canonical Allele Identifier: CA2322768568
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11107400T= , CM000681.2:g.11107400T= GRCh38
NC_000019.9:g.11218076T= , CM000681.1:g.11218076T= GRCh37
NC_000019.8:g.11079076T= NCBI36
NG_009060.1:g.23020T= , LRG_274:g.23020T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1084T= ENSP00000252444.6:p.Cys362=
ENST00000559340.2:c.826T= ENSP00000453696.2:p.Cys276=
ENST00000560467.2:c.826T= ENSP00000453513.2:p.Cys276=
ENST00000558518.6:c.826T= MANE Select ENSP00000454071.1:p.Cys276=
ENST00000252444.9:c.1080T=
ENST00000455727.6:c.322T= ENSP00000397829.2:p.Cys108=
ENST00000535915.5:c.703T= ENSP00000440520.1:p.Cys235=
ENST00000545707.5:c.445T= ENSP00000437639.1:p.Cys149=
ENST00000557933.5:c.826T= ENSP00000453557.1:p.Cys276=
ENST00000558013.5:c.826T= ENSP00000453346.1:p.Cys276=
ENST00000558518.5:c.826T= ENSP00000454071.1:p.Cys276=
ENST00000558528.1:n.341T=
ENST00000560467.1:c.426T=
NM_000527.4:c.826T= , LRG_274t1:c.826T= NP_000518.1:p.Cys276=
NM_001195798.1:c.826T= NP_001182727.1:p.Cys276=
NM_001195799.1:c.703T= NP_001182728.1:p.Cys235=
NM_001195800.1:c.322T= NP_001182729.1:p.Cys108=
NM_001195803.1:c.445T= NP_001182732.1:p.Cys149=
XM_011528010.1:c.826T= XP_011526312.1:p.Cys276=
XM_011528011.1:c.445T= XP_011526313.1:p.Cys149=
XR_244074.2:n.976T=
XM_011528010.2:c.826T= XP_011526312.1:p.Cys276=
XR_001753685.2:n.943T=
XR_001753686.2:n.943T=
NM_000527.5:c.826T= MANE Select NP_000518.1:p.Cys276=
NM_001195798.2:c.826T= NP_001182727.1:p.Cys276=
NM_001195799.2:c.703T= NP_001182728.1:p.Cys235=
NM_001195800.2:c.322T= NP_001182729.1:p.Cys108=
NM_001195803.2:c.445T= NP_001182732.1:p.Cys149=