Canonical Allele Identifier: CA2322775543
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120388G= , CM000681.2:g.11120388G= GRCh38
NC_000019.9:g.11231064G= , CM000681.1:g.11231064G= GRCh37
NC_000019.8:g.11092064G= NCBI36
NG_009060.1:g.36008G= , LRG_274:g.36008G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2264G= ENSP00000252444.6:p.Arg755=
ENST00000559340.2:c.*75G= ENSP00000453696.2:n.*75G=
ENST00000560467.2:c.1886G= ENSP00000453513.2:p.Arg629=
ENST00000558518.6:c.2006G= MANE Select ENSP00000454071.1:p.Arg669=
ENST00000252444.9:c.2260G=
ENST00000455727.6:c.1502G= ENSP00000397829.2:p.Arg501=
ENST00000535915.5:c.1883G= ENSP00000440520.1:p.Arg628=
ENST00000545707.5:c.1606+155G= ENSP00000437639.1:n.1606+155G=
ENST00000557933.5:c.2006G= ENSP00000453557.1:p.Arg669=
ENST00000558013.5:c.2006G= ENSP00000453346.1:p.Arg669=
ENST00000558518.5:c.2006G= ENSP00000454071.1:p.Arg669=
ENST00000559340.1:c.587G=
NM_000527.4:c.2006G= , LRG_274t1:c.2006G= NP_000518.1:p.Arg669=
NM_001195798.1:c.2006G= NP_001182727.1:p.Arg669=
NM_001195799.1:c.1883G= NP_001182728.1:p.Arg628=
NM_001195800.1:c.1502G= NP_001182729.1:p.Arg501=
NM_001195803.1:c.1606+155G= NP_001182732.1:n.1606+155G=
XM_011528010.1:c.2006G= XP_011526312.1:p.Arg669=
XM_011528011.1:c.1625G= XP_011526313.1:p.Arg542=
XR_244074.2:n.2016G=
XM_011528010.2:c.2006G= XP_011526312.1:p.Arg669=
XR_001753685.2:n.2123G=
XR_001753686.2:n.1983G=
NM_000527.5:c.2006G= MANE Select NP_000518.1:p.Arg669=
NM_001195798.2:c.2006G= NP_001182727.1:p.Arg669=
NM_001195799.2:c.1883G= NP_001182728.1:p.Arg628=
NM_001195800.2:c.1502G= NP_001182729.1:p.Arg501=
NM_001195803.2:c.1606+155G= NP_001182732.1:n.1606+155G=