Canonical Allele Identifier: CA2322768153
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11106587C= , CM000681.2:g.11106587C= GRCh38
NC_000019.9:g.11217263C= , CM000681.1:g.11217263C= GRCh37
NC_000019.8:g.11078263C= NCBI36
NG_009060.1:g.22207C= , LRG_274:g.22207C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.975C= ENSP00000252444.6:p.Asp325=
ENST00000559340.2:c.717C= ENSP00000453696.2:p.Asp239=
ENST00000560467.2:c.717C= ENSP00000453513.2:p.Asp239=
ENST00000558518.6:c.717C= MANE Select ENSP00000454071.1:p.Asp239=
ENST00000252444.9:c.971C=
ENST00000455727.6:c.314-805C= ENSP00000397829.2:n.314-805C=
ENST00000535915.5:c.594C= ENSP00000440520.1:p.Asp198=
ENST00000545707.5:c.336C= ENSP00000437639.1:p.Asp112=
ENST00000557933.5:c.717C= ENSP00000453557.1:p.Asp239=
ENST00000558013.5:c.717C= ENSP00000453346.1:p.Asp239=
ENST00000558518.5:c.717C= ENSP00000454071.1:p.Asp239=
ENST00000558528.1:n.232C=
ENST00000560467.1:c.317C=
NM_000527.4:c.717C= , LRG_274t1:c.717C= NP_000518.1:p.Asp239=
NM_001195798.1:c.717C= NP_001182727.1:p.Asp239=
NM_001195799.1:c.594C= NP_001182728.1:p.Asp198=
NM_001195800.1:c.314-805C= NP_001182729.1:n.314-805C=
NM_001195803.1:c.336C= NP_001182732.1:p.Asp112=
XM_011528010.1:c.717C= XP_011526312.1:p.Asp239=
XM_011528011.1:c.336C= XP_011526313.1:p.Asp112=
XR_244074.2:n.867C=
XM_011528010.2:c.717C= XP_011526312.1:p.Asp239=
XR_001753685.2:n.834C=
XR_001753686.2:n.834C=
NM_000527.5:c.717C= MANE Select NP_000518.1:p.Asp239=
NM_001195798.2:c.717C= NP_001182727.1:p.Asp239=
NM_001195799.2:c.594C= NP_001182728.1:p.Asp198=
NM_001195800.2:c.314-805C= NP_001182729.1:n.314-805C=
NM_001195803.2:c.336C= NP_001182732.1:p.Asp112=