Canonical Allele Identifier: CA404077229
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1389105
ClinVar RCV Id: RCV001886997
dbSNP Id: rs2147224605

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105459A>T , CM000681.2:g.11105459A>T GRCh38
NC_000019.9:g.11216135A>T , CM000681.1:g.11216135A>T GRCh37
NC_000019.8:g.11077135A>T NCBI36
NG_009060.1:g.21079A>T , LRG_274:g.21079A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.811A>T ENSP00000252444.6:p.Arg271Trp
ENST00000559340.2:c.553A>T ENSP00000453696.2:p.Arg185Trp
ENST00000560467.2:c.553A>T ENSP00000453513.2:p.Arg185Trp
ENST00000558518.6:c.553A>T MANE Select ENSP00000454071.1:p.Arg185Trp
ENST00000252444.9:c.807A>T
ENST00000455727.6:c.314-1933A>T ENSP00000397829.2:n.314-1933A>T
ENST00000535915.5:c.430A>T ENSP00000440520.1:p.Arg144Trp
ENST00000545707.5:c.314-1106A>T ENSP00000437639.1:n.314-1106A>T
ENST00000557933.5:c.553A>T ENSP00000453557.1:p.Arg185Trp
ENST00000558013.5:c.553A>T ENSP00000453346.1:p.Arg185Trp
ENST00000558518.5:c.553A>T ENSP00000454071.1:p.Arg185Trp
ENST00000560467.1:c.153A>T
NM_000527.4:c.553A>T , LRG_274t1:c.553A>T NP_000518.1:p.Arg185Trp
NM_001195798.1:c.553A>T NP_001182727.1:p.Arg185Trp
NM_001195799.1:c.430A>T NP_001182728.1:p.Arg144Trp
NM_001195800.1:c.314-1933A>T NP_001182729.1:n.314-1933A>T
NM_001195803.1:c.314-1106A>T NP_001182732.1:n.314-1106A>T
XM_011528010.1:c.553A>T XP_011526312.1:p.Arg185Trp
XM_011528011.1:c.314-1106A>T XP_011526313.1:n.314-1106A>T
XR_244074.2:n.703A>T
XM_011528010.2:c.553A>T XP_011526312.1:p.Arg185Trp
XR_001753685.2:n.670A>T
XR_001753686.2:n.670A>T
NM_000527.5:c.553A>T MANE Select NP_000518.1:p.Arg185Trp
NM_001195798.2:c.553A>T NP_001182727.1:p.Arg185Trp
NM_001195799.2:c.430A>T NP_001182728.1:p.Arg144Trp
NM_001195800.2:c.314-1933A>T NP_001182729.1:n.314-1933A>T
NM_001195803.2:c.314-1106A>T NP_001182732.1:n.314-1106A>T