Canonical Allele Identifier: CA10576296
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 226343
dbSNP Id: rs875989914

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11110760G>C , CM000681.2:g.11110760G>C GRCh38
NC_000019.9:g.11221436G>C , CM000681.1:g.11221436G>C GRCh37
NC_000019.8:g.11082436G>C NCBI36
NG_009060.1:g.26380G>C , LRG_274:g.26380G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1307G>C ENSP00000252444.6:p.Arg436Pro
ENST00000559340.2:c.1049G>C ENSP00000453696.2:p.Arg350Pro
ENST00000560467.2:c.941-754G>C ENSP00000453513.2:n.941-754G>C
ENST00000558518.6:c.1049G>C MANE Select ENSP00000454071.1:p.Arg350Pro
ENST00000252444.9:c.1303G>C
ENST00000455727.6:c.545G>C ENSP00000397829.2:p.Arg182Pro
ENST00000535915.5:c.926G>C ENSP00000440520.1:p.Arg309Pro
ENST00000545707.5:c.668G>C ENSP00000437639.1:p.Arg223Pro
ENST00000557933.5:c.1049G>C ENSP00000453557.1:p.Arg350Pro
ENST00000558013.5:c.1049G>C ENSP00000453346.1:p.Arg350Pro
ENST00000558518.5:c.1049G>C ENSP00000454071.1:p.Arg350Pro
ENST00000560173.1:n.48G>C
ENST00000560467.1:c.541-754G>C
NM_000527.4:c.1049G>C , LRG_274t1:c.1049G>C NP_000518.1:p.Arg350Pro
NM_001195798.1:c.1049G>C NP_001182727.1:p.Arg350Pro
NM_001195799.1:c.926G>C NP_001182728.1:p.Arg309Pro
NM_001195800.1:c.545G>C NP_001182729.1:p.Arg182Pro
NM_001195803.1:c.668G>C NP_001182732.1:p.Arg223Pro
XM_011528010.1:c.1049G>C XP_011526312.1:p.Arg350Pro
XM_011528011.1:c.668G>C XP_011526313.1:p.Arg223Pro
XR_244074.2:n.1199G>C
XM_011528010.2:c.1049G>C XP_011526312.1:p.Arg350Pro
XR_001753685.2:n.1166G>C
XR_001753686.2:n.1166G>C
NM_000527.5:c.1049G>C MANE Select NP_000518.1:p.Arg350Pro
NM_001195798.2:c.1049G>C NP_001182727.1:p.Arg350Pro
NM_001195799.2:c.926G>C NP_001182728.1:p.Arg309Pro
NM_001195800.2:c.545G>C NP_001182729.1:p.Arg182Pro
NM_001195803.2:c.668G>C NP_001182732.1:p.Arg223Pro