Canonical Allele Identifier: CA2322775553
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120400G= , CM000681.2:g.11120400G= GRCh38
NC_000019.9:g.11231076G= , CM000681.1:g.11231076G= GRCh37
NC_000019.8:g.11092076G= NCBI36
NG_009060.1:g.36020G= , LRG_274:g.36020G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2276G= ENSP00000252444.6:p.Ser759=
ENST00000559340.2:c.*87G= ENSP00000453696.2:n.*87G=
ENST00000560467.2:c.1898G= ENSP00000453513.2:p.Ser633=
ENST00000558518.6:c.2018G= MANE Select ENSP00000454071.1:p.Ser673=
ENST00000252444.9:c.2272G=
ENST00000455727.6:c.1514G= ENSP00000397829.2:p.Ser505=
ENST00000535915.5:c.1895G= ENSP00000440520.1:p.Ser632=
ENST00000545707.5:c.1606+167G= ENSP00000437639.1:n.1606+167G=
ENST00000557933.5:c.2018G= ENSP00000453557.1:p.Ser673=
ENST00000558013.5:c.2018G= ENSP00000453346.1:p.Ser673=
ENST00000558518.5:c.2018G= ENSP00000454071.1:p.Ser673=
ENST00000559340.1:c.599G=
NM_000527.4:c.2018G= , LRG_274t1:c.2018G= NP_000518.1:p.Ser673=
NM_001195798.1:c.2018G= NP_001182727.1:p.Ser673=
NM_001195799.1:c.1895G= NP_001182728.1:p.Ser632=
NM_001195800.1:c.1514G= NP_001182729.1:p.Ser505=
NM_001195803.1:c.1606+167G= NP_001182732.1:n.1606+167G=
XM_011528010.1:c.2018G= XP_011526312.1:p.Ser673=
XM_011528011.1:c.1637G= XP_011526313.1:p.Ser546=
XR_244074.2:n.2028G=
XM_011528010.2:c.2018G= XP_011526312.1:p.Ser673=
XR_001753685.2:n.2135G=
XR_001753686.2:n.1995G=
NM_000527.5:c.2018G= MANE Select NP_000518.1:p.Ser673=
NM_001195798.2:c.2018G= NP_001182727.1:p.Ser673=
NM_001195799.2:c.1895G= NP_001182728.1:p.Ser632=
NM_001195800.2:c.1514G= NP_001182729.1:p.Ser505=
NM_001195803.2:c.1606+167G= NP_001182732.1:n.1606+167G=