Canonical Allele Identifier: CA404074606
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1905377
ClinVar RCV Id: RCV002580826
dbSNP Id: rs1600700344

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11100235G>A , CM000681.2:g.11100235G>A GRCh38
NC_000019.9:g.11210911G>A , CM000681.1:g.11210911G>A GRCh37
NC_000019.8:g.11071911G>A NCBI36
NG_009060.1:g.15855G>A , LRG_274:g.15855G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.338G>A ENSP00000252444.6:p.Cys113Tyr
ENST00000559340.2:c.80G>A ENSP00000453696.2:p.Cys27Tyr
ENST00000560467.2:c.80G>A ENSP00000453513.2:p.Cys27Tyr
ENST00000558518.6:c.80G>A MANE Select ENSP00000454071.1:p.Cys27Tyr
ENST00000252444.9:c.334G>A
ENST00000455727.6:c.80G>A ENSP00000397829.2:p.Cys27Tyr
ENST00000535915.5:c.80G>A ENSP00000440520.1:p.Cys27Tyr
ENST00000545707.5:c.80G>A ENSP00000437639.1:p.Cys27Tyr
ENST00000557933.5:c.80G>A ENSP00000453557.1:p.Cys27Tyr
ENST00000557958.1:n.166G>A
ENST00000558013.5:c.80G>A ENSP00000453346.1:p.Cys27Tyr
ENST00000558518.5:c.80G>A ENSP00000454071.1:p.Cys27Tyr
ENST00000560502.5:n.166G>A
NM_000527.4:c.80G>A , LRG_274t1:c.80G>A NP_000518.1:p.Cys27Tyr
NM_001195798.1:c.80G>A NP_001182727.1:p.Cys27Tyr
NM_001195799.1:c.80G>A NP_001182728.1:p.Cys27Tyr
NM_001195800.1:c.80G>A NP_001182729.1:p.Cys27Tyr
NM_001195803.1:c.80G>A NP_001182732.1:p.Cys27Tyr
XM_011528010.1:c.80G>A XP_011526312.1:p.Cys27Tyr
XM_011528011.1:c.80G>A XP_011526313.1:p.Cys27Tyr
XR_244074.2:n.230G>A
XM_011528010.2:c.80G>A XP_011526312.1:p.Cys27Tyr
XR_001753685.2:n.197G>A
XR_001753686.2:n.197G>A
NM_000527.5:c.80G>A MANE Select NP_000518.1:p.Cys27Tyr
NM_001195798.2:c.80G>A NP_001182727.1:p.Cys27Tyr
NM_001195799.2:c.80G>A NP_001182728.1:p.Cys27Tyr
NM_001195800.2:c.80G>A NP_001182729.1:p.Cys27Tyr
NM_001195803.2:c.80G>A NP_001182732.1:p.Cys27Tyr