Canonical Allele Identifier: CA404080620
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1763461
ClinVar RCV Id: RCV002447556
MyVariant Identifiers: chr19:g.11218095T>A (hg19) chr19:g.11107419T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11107419T>A , CM000681.2:g.11107419T>A GRCh38
NC_000019.9:g.11218095T>A , CM000681.1:g.11218095T>A GRCh37
NC_000019.8:g.11079095T>A NCBI36
NG_009060.1:g.23039T>A , LRG_274:g.23039T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1103T>A ENSP00000252444.6:p.Phe368Tyr
ENST00000559340.2:c.845T>A ENSP00000453696.2:p.Phe282Tyr
ENST00000560467.2:c.845T>A ENSP00000453513.2:p.Phe282Tyr
ENST00000558518.6:c.845T>A MANE Select ENSP00000454071.1:p.Phe282Tyr
ENST00000252444.9:c.1099T>A
ENST00000455727.6:c.341T>A ENSP00000397829.2:p.Phe114Tyr
ENST00000535915.5:c.722T>A ENSP00000440520.1:p.Phe241Tyr
ENST00000545707.5:c.464T>A ENSP00000437639.1:p.Phe155Tyr
ENST00000557933.5:c.845T>A ENSP00000453557.1:p.Phe282Tyr
ENST00000558013.5:c.845T>A ENSP00000453346.1:p.Phe282Tyr
ENST00000558518.5:c.845T>A ENSP00000454071.1:p.Phe282Tyr
ENST00000558528.1:n.360T>A
ENST00000560467.1:c.445T>A
NM_000527.4:c.845T>A , LRG_274t1:c.845T>A NP_000518.1:p.Phe282Tyr
NM_001195798.1:c.845T>A NP_001182727.1:p.Phe282Tyr
NM_001195799.1:c.722T>A NP_001182728.1:p.Phe241Tyr
NM_001195800.1:c.341T>A NP_001182729.1:p.Phe114Tyr
NM_001195803.1:c.464T>A NP_001182732.1:p.Phe155Tyr
XM_011528010.1:c.845T>A XP_011526312.1:p.Phe282Tyr
XM_011528011.1:c.464T>A XP_011526313.1:p.Phe155Tyr
XR_244074.2:n.995T>A
XM_011528010.2:c.845T>A XP_011526312.1:p.Phe282Tyr
XR_001753685.2:n.962T>A
XR_001753686.2:n.962T>A
NM_000527.5:c.845T>A MANE Select NP_000518.1:p.Phe282Tyr
NM_001195798.2:c.845T>A NP_001182727.1:p.Phe282Tyr
NM_001195799.2:c.722T>A NP_001182728.1:p.Phe241Tyr
NM_001195800.2:c.341T>A NP_001182729.1:p.Phe114Tyr
NM_001195803.2:c.464T>A NP_001182732.1:p.Phe155Tyr
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