Canonical Allele Identifier: CA1139666269
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 988768
dbSNP Id: rs2077408827

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113346dup , CM000681.2:g.11113346dup GRCh38
NC_000019.9:g.11224022dup , CM000681.1:g.11224022dup GRCh37
NC_000019.8:g.11085022dup NCBI36
NG_009060.1:g.28966dup , LRG_274:g.28966dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1513dup ENSP00000252444.6:p.Tyr505LeufsTer22
ENST00000559340.2:c.1255dup ENSP00000453696.2:p.Tyr419LeufsTer22
ENST00000560467.2:c.1135dup ENSP00000453513.2:p.Tyr379LeufsTer22
ENST00000558518.6:c.1255dup MANE Select ENSP00000454071.1:p.Tyr419LeufsTer22
ENST00000252444.9:c.1509dup
ENST00000455727.6:c.751dup ENSP00000397829.2:p.Tyr251LeufsTer22
ENST00000535915.5:c.1132dup ENSP00000440520.1:p.Tyr378LeufsTer22
ENST00000545707.5:c.874dup ENSP00000437639.1:p.Tyr292LeufsTer22
ENST00000557933.5:c.1255dup ENSP00000453557.1:p.Tyr419LeufsTer22
ENST00000558013.5:c.1255dup ENSP00000453346.1:p.Tyr419LeufsTer22
ENST00000558518.5:c.1255dup ENSP00000454071.1:p.Tyr419LeufsTer22
ENST00000560173.1:n.254dup
ENST00000560467.1:c.735dup
NM_000527.4:c.1255dup , LRG_274t1:c.1255dup NP_000518.1:p.Tyr419LeufsTer22
NM_001195798.1:c.1255dup NP_001182727.1:p.Tyr419LeufsTer22
NM_001195799.1:c.1132dup NP_001182728.1:p.Tyr378LeufsTer22
NM_001195800.1:c.751dup NP_001182729.1:p.Tyr251LeufsTer22
NM_001195803.1:c.874dup NP_001182732.1:p.Tyr292LeufsTer22
XM_011528010.1:c.1255dup XP_011526312.1:p.Tyr419LeufsTer22
XM_011528011.1:c.874dup XP_011526313.1:p.Tyr292LeufsTer22
XR_244074.2:n.1405dup
XM_011528010.2:c.1255dup XP_011526312.1:p.Tyr419LeufsTer22
XR_001753685.2:n.1372dup
XR_001753686.2:n.1372dup
NM_000527.5:c.1255dup MANE Select NP_000518.1:p.Tyr419LeufsTer22
NM_001195798.2:c.1255dup NP_001182727.1:p.Tyr419LeufsTer22
NM_001195799.2:c.1132dup NP_001182728.1:p.Tyr378LeufsTer22
NM_001195800.2:c.751dup NP_001182729.1:p.Tyr251LeufsTer22
NM_001195803.2:c.874dup NP_001182732.1:p.Tyr292LeufsTer22