Canonical Allele Identifier: CA2322775405
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120183T= , CM000681.2:g.11120183T= GRCh38
NC_000019.9:g.11230859T= , CM000681.1:g.11230859T= GRCh37
NC_000019.8:g.11091859T= NCBI36
NG_009060.1:g.35803T= , LRG_274:g.35803T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2195T= ENSP00000252444.6:p.Leu732=
ENST00000559340.2:c.*6T= ENSP00000453696.2:n.*6T=
ENST00000560467.2:c.1817T= ENSP00000453513.2:p.Leu606=
ENST00000558518.6:c.1937T= MANE Select ENSP00000454071.1:p.Leu646=
ENST00000252444.9:c.2191T=
ENST00000455727.6:c.1433T= ENSP00000397829.2:p.Leu478=
ENST00000535915.5:c.1814T= ENSP00000440520.1:p.Leu605=
ENST00000545707.5:c.1556T= ENSP00000437639.1:p.Leu519=
ENST00000557933.5:c.1937T= ENSP00000453557.1:p.Leu646=
ENST00000558013.5:c.1937T= ENSP00000453346.1:p.Leu646=
ENST00000558518.5:c.1937T= ENSP00000454071.1:p.Leu646=
ENST00000559340.1:c.518T=
NM_000527.4:c.1937T= , LRG_274t1:c.1937T= NP_000518.1:p.Leu646=
NM_001195798.1:c.1937T= NP_001182727.1:p.Leu646=
NM_001195799.1:c.1814T= NP_001182728.1:p.Leu605=
NM_001195800.1:c.1433T= NP_001182729.1:p.Leu478=
NM_001195803.1:c.1556T= NP_001182732.1:p.Leu519=
XM_011528010.1:c.1937T= XP_011526312.1:p.Leu646=
XM_011528011.1:c.1556T= XP_011526313.1:p.Leu519=
XR_244074.2:n.1947T=
XM_011528010.2:c.1937T= XP_011526312.1:p.Leu646=
XR_001753685.2:n.2054T=
XR_001753686.2:n.1914T=
NM_000527.5:c.1937T= MANE Select NP_000518.1:p.Leu646=
NM_001195798.2:c.1937T= NP_001182727.1:p.Leu646=
NM_001195799.2:c.1814T= NP_001182728.1:p.Leu605=
NM_001195800.2:c.1433T= NP_001182729.1:p.Leu478=
NM_001195803.2:c.1556T= NP_001182732.1:p.Leu519=