Canonical Allele Identifier: CA404094897
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 431543
ClinVar RCV Id: RCV000497022
dbSNP Id: rs1135402781

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11123217G>C , CM000681.2:g.11123217G>C GRCh38
NC_000019.9:g.11233893G>C , CM000681.1:g.11233893G>C GRCh37
NC_000019.8:g.11094893G>C NCBI36
NG_009060.1:g.38837G>C , LRG_274:g.38837G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2442G>C ENSP00000252444.6:p.Arg814Ser
ENST00000559340.2:c.*253G>C ENSP00000453696.2:n.*253G>C
ENST00000560467.2:c.2064G>C ENSP00000453513.2:p.Arg688Ser
ENST00000558518.6:c.2184G>C MANE Select ENSP00000454071.1:p.Arg728Ser
ENST00000252444.9:c.2438G>C
ENST00000455727.6:c.1680G>C ENSP00000397829.2:p.Arg560Ser
ENST00000535915.5:c.2061G>C ENSP00000440520.1:p.Arg687Ser
ENST00000545707.5:c.1650G>C ENSP00000437639.1:p.Arg550Ser
ENST00000557933.5:c.2184G>C ENSP00000453557.1:p.Arg728Ser
ENST00000558013.5:c.2184G>C ENSP00000453346.1:p.Arg728Ser
ENST00000558518.5:c.2184G>C ENSP00000454071.1:p.Arg728Ser
NM_000527.4:c.2184G>C , LRG_274t1:c.2184G>C NP_000518.1:p.Arg728Ser
NM_001195798.1:c.2184G>C NP_001182727.1:p.Arg728Ser
NM_001195799.1:c.2061G>C NP_001182728.1:p.Arg687Ser
NM_001195800.1:c.1680G>C NP_001182729.1:p.Arg560Ser
NM_001195803.1:c.1650G>C NP_001182732.1:p.Arg550Ser
XM_011528010.1:c.2184G>C XP_011526312.1:p.Arg728Ser
XM_011528011.1:c.1803G>C XP_011526313.1:p.Arg601Ser
XR_244074.2:n.2194G>C
XM_011528010.2:c.2184G>C XP_011526312.1:p.Arg728Ser
XR_001753685.2:n.2518G>C
XR_001753686.2:n.2161G>C
NM_000527.5:c.2184G>C MANE Select NP_000518.1:p.Arg728Ser
NM_001195798.2:c.2184G>C NP_001182727.1:p.Arg728Ser
NM_001195799.2:c.2061G>C NP_001182728.1:p.Arg687Ser
NM_001195800.2:c.1680G>C NP_001182729.1:p.Arg560Ser
NM_001195803.2:c.1650G>C NP_001182732.1:p.Arg550Ser