Canonical Allele Identifier: CA2322767559
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105541C= , CM000681.2:g.11105541C= GRCh38
NC_000019.9:g.11216217C= , CM000681.1:g.11216217C= GRCh37
NC_000019.8:g.11077217C= NCBI36
NG_009060.1:g.21161C= , LRG_274:g.21161C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.893C= ENSP00000252444.6:p.Ser298=
ENST00000559340.2:c.635C= ENSP00000453696.2:p.Ser212=
ENST00000560467.2:c.635C= ENSP00000453513.2:p.Ser212=
ENST00000558518.6:c.635C= MANE Select ENSP00000454071.1:p.Ser212=
ENST00000252444.9:c.889C=
ENST00000455727.6:c.314-1851C= ENSP00000397829.2:n.314-1851C=
ENST00000535915.5:c.512C= ENSP00000440520.1:p.Ser171=
ENST00000545707.5:c.314-1024C= ENSP00000437639.1:n.314-1024C=
ENST00000557933.5:c.635C= ENSP00000453557.1:p.Ser212=
ENST00000558013.5:c.635C= ENSP00000453346.1:p.Ser212=
ENST00000558518.5:c.635C= ENSP00000454071.1:p.Ser212=
ENST00000560467.1:c.235C=
NM_000527.4:c.635C= , LRG_274t1:c.635C= NP_000518.1:p.Ser212=
NM_001195798.1:c.635C= NP_001182727.1:p.Ser212=
NM_001195799.1:c.512C= NP_001182728.1:p.Ser171=
NM_001195800.1:c.314-1851C= NP_001182729.1:n.314-1851C=
NM_001195803.1:c.314-1024C= NP_001182732.1:n.314-1024C=
XM_011528010.1:c.635C= XP_011526312.1:p.Ser212=
XM_011528011.1:c.314-1024C= XP_011526313.1:n.314-1024C=
XR_244074.2:n.785C=
XM_011528010.2:c.635C= XP_011526312.1:p.Ser212=
XR_001753685.2:n.752C=
XR_001753686.2:n.752C=
NM_000527.5:c.635C= MANE Select NP_000518.1:p.Ser212=
NM_001195798.2:c.635C= NP_001182727.1:p.Ser212=
NM_001195799.2:c.512C= NP_001182728.1:p.Ser171=
NM_001195800.2:c.314-1851C= NP_001182729.1:n.314-1851C=
NM_001195803.2:c.314-1024C= NP_001182732.1:n.314-1024C=