Canonical Allele Identifier: CA10576334
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 226392
ClinVar RCV Id: RCV000211559
dbSNP Id: rs875989943

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11128040A>T , CM000681.2:g.11128040A>T GRCh38
NC_000019.9:g.11238716A>T , CM000681.1:g.11238716A>T GRCh37
NC_000019.8:g.11099716A>T NCBI36
NG_009060.1:g.43660A>T , LRG_274:g.43660A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.2602A>T ENSP00000252444.6:p.Lys868Ter
ENST00000559340.2:c.*413A>T ENSP00000453696.2:n.*413A>T
ENST00000560467.2:c.2224A>T ENSP00000453513.2:p.Lys742Ter
ENST00000558518.6:c.2344A>T MANE Select ENSP00000454071.1:p.Lys782Ter
ENST00000252444.9:c.2598A>T
ENST00000455727.6:c.1840A>T ENSP00000397829.2:p.Lys614Ter
ENST00000535915.5:c.2221A>T ENSP00000440520.1:p.Lys741Ter
ENST00000545707.5:c.1810A>T ENSP00000437639.1:p.Lys604Ter
ENST00000557933.5:c.2344A>T ENSP00000453557.1:p.Lys782Ter
ENST00000558013.5:c.2344A>T ENSP00000453346.1:p.Lys782Ter
ENST00000558518.5:c.2344A>T ENSP00000454071.1:p.Lys782Ter
ENST00000560628.1:n.108+386A>T
NM_000527.4:c.2344A>T , LRG_274t1:c.2344A>T NP_000518.1:p.Lys782Ter
NM_001195798.1:c.2344A>T NP_001182727.1:p.Lys782Ter
NM_001195799.1:c.2221A>T NP_001182728.1:p.Lys741Ter
NM_001195800.1:c.1840A>T NP_001182729.1:p.Lys614Ter
NM_001195803.1:c.1810A>T NP_001182732.1:p.Lys604Ter
XM_011528010.1:c.2312-1473A>T XP_011526312.1:n.2312-1473A>T
XM_011528011.1:c.1963A>T XP_011526313.1:p.Lys655Ter
XR_244074.2:n.2354A>T
XM_011528010.2:c.2312-1473A>T XP_011526312.1:n.2312-1473A>T
XR_001753685.2:n.2678A>T
XR_001753686.2:n.2321A>T
NM_000527.5:c.2344A>T MANE Select NP_000518.1:p.Lys782Ter
NM_001195798.2:c.2344A>T NP_001182727.1:p.Lys782Ter
NM_001195799.2:c.2221A>T NP_001182728.1:p.Lys741Ter
NM_001195800.2:c.1840A>T NP_001182729.1:p.Lys614Ter
NM_001195803.2:c.1810A>T NP_001182732.1:p.Lys604Ter