Canonical Allele Identifier: CA2322770222
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11110664G= , CM000681.2:g.11110664G= GRCh38
NC_000019.9:g.11221340G= , CM000681.1:g.11221340G= GRCh37
NC_000019.8:g.11082340G= NCBI36
NG_009060.1:g.26284G= , LRG_274:g.26284G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1211G= ENSP00000252444.6:p.Cys404=
ENST00000559340.2:c.953G= ENSP00000453696.2:p.Cys318=
ENST00000560467.2:c.941-850G= ENSP00000453513.2:n.941-850G=
ENST00000558518.6:c.953G= MANE Select ENSP00000454071.1:p.Cys318=
ENST00000252444.9:c.1207G=
ENST00000455727.6:c.449G= ENSP00000397829.2:p.Cys150=
ENST00000535915.5:c.830G= ENSP00000440520.1:p.Cys277=
ENST00000545707.5:c.572G= ENSP00000437639.1:p.Cys191=
ENST00000557933.5:c.953G= ENSP00000453557.1:p.Cys318=
ENST00000558013.5:c.953G= ENSP00000453346.1:p.Cys318=
ENST00000558518.5:c.953G= ENSP00000454071.1:p.Cys318=
ENST00000560467.1:c.541-850G=
NM_000527.4:c.953G= , LRG_274t1:c.953G= NP_000518.1:p.Cys318=
NM_001195798.1:c.953G= NP_001182727.1:p.Cys318=
NM_001195799.1:c.830G= NP_001182728.1:p.Cys277=
NM_001195800.1:c.449G= NP_001182729.1:p.Cys150=
NM_001195803.1:c.572G= NP_001182732.1:p.Cys191=
XM_011528010.1:c.953G= XP_011526312.1:p.Cys318=
XM_011528011.1:c.572G= XP_011526313.1:p.Cys191=
XR_244074.2:n.1103G=
XM_011528010.2:c.953G= XP_011526312.1:p.Cys318=
XR_001753685.2:n.1070G=
XR_001753686.2:n.1070G=
NM_000527.5:c.953G= MANE Select NP_000518.1:p.Cys318=
NM_001195798.2:c.953G= NP_001182727.1:p.Cys318=
NM_001195799.2:c.830G= NP_001182728.1:p.Cys277=
NM_001195800.2:c.449G= NP_001182729.1:p.Cys150=
NM_001195803.2:c.572G= NP_001182732.1:p.Cys191=