Canonical Allele Identifier: CA2322775422
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120203G= , CM000681.2:g.11120203G= GRCh38
NC_000019.9:g.11230879G= , CM000681.1:g.11230879G= GRCh37
NC_000019.8:g.11091879G= NCBI36
NG_009060.1:g.35823G= , LRG_274:g.35823G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2215G= ENSP00000252444.6:p.Val739=
ENST00000559340.2:c.*26G= ENSP00000453696.2:n.*26G=
ENST00000560467.2:c.1837G= ENSP00000453513.2:p.Val613=
ENST00000558518.6:c.1957G= MANE Select ENSP00000454071.1:p.Val653=
ENST00000252444.9:c.2211G=
ENST00000455727.6:c.1453G= ENSP00000397829.2:p.Val485=
ENST00000535915.5:c.1834G= ENSP00000440520.1:p.Val612=
ENST00000545707.5:c.1576G= ENSP00000437639.1:p.Val526=
ENST00000557933.5:c.1957G= ENSP00000453557.1:p.Val653=
ENST00000558013.5:c.1957G= ENSP00000453346.1:p.Val653=
ENST00000558518.5:c.1957G= ENSP00000454071.1:p.Val653=
ENST00000559340.1:c.538G=
NM_000527.4:c.1957G= , LRG_274t1:c.1957G= NP_000518.1:p.Val653=
NM_001195798.1:c.1957G= NP_001182727.1:p.Val653=
NM_001195799.1:c.1834G= NP_001182728.1:p.Val612=
NM_001195800.1:c.1453G= NP_001182729.1:p.Val485=
NM_001195803.1:c.1576G= NP_001182732.1:p.Val526=
XM_011528010.1:c.1957G= XP_011526312.1:p.Val653=
XM_011528011.1:c.1576G= XP_011526313.1:p.Val526=
XR_244074.2:n.1967G=
XM_011528010.2:c.1957G= XP_011526312.1:p.Val653=
XR_001753685.2:n.2074G=
XR_001753686.2:n.1934G=
NM_000527.5:c.1957G= MANE Select NP_000518.1:p.Val653=
NM_001195798.2:c.1957G= NP_001182727.1:p.Val653=
NM_001195799.2:c.1834G= NP_001182728.1:p.Val612=
NM_001195800.2:c.1453G= NP_001182729.1:p.Val485=
NM_001195803.2:c.1576G= NP_001182732.1:p.Val526=