Canonical Allele Identifier: CA2322775653
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120507A= , CM000681.2:g.11120507A= GRCh38
NC_000019.9:g.11231183A= , CM000681.1:g.11231183A= GRCh37
NC_000019.8:g.11092183A= NCBI36
NG_009060.1:g.36127A= , LRG_274:g.36127A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2383A= ENSP00000252444.6:p.Arg795=
ENST00000559340.2:c.*194A= ENSP00000453696.2:n.*194A=
ENST00000560467.2:c.2005A= ENSP00000453513.2:p.Arg669=
ENST00000558518.6:c.2125A= MANE Select ENSP00000454071.1:p.Arg709=
ENST00000252444.9:c.2379A=
ENST00000455727.6:c.1621A= ENSP00000397829.2:p.Arg541=
ENST00000535915.5:c.2002A= ENSP00000440520.1:p.Arg668=
ENST00000545707.5:c.1606+274A= ENSP00000437639.1:n.1606+274A=
ENST00000557933.5:c.2125A= ENSP00000453557.1:p.Arg709=
ENST00000558013.5:c.2125A= ENSP00000453346.1:p.Arg709=
ENST00000558518.5:c.2125A= ENSP00000454071.1:p.Arg709=
NM_000527.4:c.2125A= , LRG_274t1:c.2125A= NP_000518.1:p.Arg709=
NM_001195798.1:c.2125A= NP_001182727.1:p.Arg709=
NM_001195799.1:c.2002A= NP_001182728.1:p.Arg668=
NM_001195800.1:c.1621A= NP_001182729.1:p.Arg541=
NM_001195803.1:c.1606+274A= NP_001182732.1:n.1606+274A=
XM_011528010.1:c.2125A= XP_011526312.1:p.Arg709=
XM_011528011.1:c.1744A= XP_011526313.1:p.Arg582=
XR_244074.2:n.2135A=
XM_011528010.2:c.2125A= XP_011526312.1:p.Arg709=
XR_001753685.2:n.2242A=
XR_001753686.2:n.2102A=
NM_000527.5:c.2125A= MANE Select NP_000518.1:p.Arg709=
NM_001195798.2:c.2125A= NP_001182727.1:p.Arg709=
NM_001195799.2:c.2002A= NP_001182728.1:p.Arg668=
NM_001195800.2:c.1621A= NP_001182729.1:p.Arg541=
NM_001195803.2:c.1606+274A= NP_001182732.1:n.1606+274A=