Canonical Allele Identifier: CA023753
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3738
dbSNP Id: rs200238879

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105602T>C , CM000681.2:g.11105602T>C GRCh38
NC_000019.9:g.11216278T>C , CM000681.1:g.11216278T>C GRCh37
NC_000019.8:g.11077278T>C NCBI36
NG_009060.1:g.21222T>C , LRG_274:g.21222T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000558518.6:c.694+2T>C MANE Select ENSP00000454071.1:p.=
ENST00000252444.9:n.948+2T>C
ENST00000455727.6:c.314-1790T>C ENSP00000397829.2:p.=
ENST00000535915.5:c.571+2T>C ENSP00000440520.1:p.=
ENST00000545707.5:c.314-963T>C ENSP00000437639.1:p.=
ENST00000557933.5:c.694+2T>C ENSP00000453557.1:p.=
ENST00000558013.5:c.694+2T>C ENSP00000453346.1:p.=
ENST00000558518.5:c.694+2T>C ENSP00000454071.1:p.=
ENST00000560467.1:n.294+2T>C
NM_000527.4:c.694+2T>C , LRG_274t1:c.694+2T>C NP_000518.1:p.=
NM_001195798.1:c.694+2T>C NP_001182727.1:p.=
NM_001195799.1:c.571+2T>C NP_001182728.1:p.=
NM_001195800.1:c.314-1790T>C NP_001182729.1:p.=
NM_001195803.1:c.314-963T>C NP_001182732.1:p.=
XM_011528010.1:c.694+2T>C XP_011526312.1:p.=
XM_011528011.1:c.314-963T>C XP_011526313.1:p.=
XR_244074.2:n.844+2T>C
XM_011528010.2:c.694+2T>C XP_011526312.1:p.=
XR_001753685.2:n.811+2T>C
XR_001753686.2:n.811+2T>C
NM_000527.5:c.694+2T>C MANE Select NP_000518.1:p.=
NM_001195798.2:c.694+2T>C NP_001182727.1:p.=
NM_001195799.2:c.571+2T>C NP_001182728.1:p.=
NM_001195800.2:c.314-1790T>C NP_001182729.1:p.=
NM_001195803.2:c.314-963T>C NP_001182732.1:p.=