Canonical Allele Identifier: CA404081049
Gene: LDLR HGNC NCBI

Linked Data

dbSNP Id: rs1600715519
MyVariant Identifiers: chr19:g.11218166T>G (hg19) chr19:g.11107490T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11107490T>G , CM000681.2:g.11107490T>G GRCh38
NC_000019.9:g.11218166T>G , CM000681.1:g.11218166T>G GRCh37
NC_000019.8:g.11079166T>G NCBI36
NG_009060.1:g.23110T>G , LRG_274:g.23110T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1174T>G ENSP00000252444.6:p.Ser392Ala
ENST00000559340.2:c.916T>G ENSP00000453696.2:p.Ser306Ala
ENST00000560467.2:c.916T>G ENSP00000453513.2:p.Ser306Ala
ENST00000558518.6:c.916T>G MANE Select ENSP00000454071.1:p.Ser306Ala
ENST00000252444.9:c.1170T>G
ENST00000455727.6:c.412T>G ENSP00000397829.2:p.Ser138Ala
ENST00000535915.5:c.793T>G ENSP00000440520.1:p.Ser265Ala
ENST00000545707.5:c.535T>G ENSP00000437639.1:p.Ser179Ala
ENST00000557933.5:c.916T>G ENSP00000453557.1:p.Ser306Ala
ENST00000558013.5:c.916T>G ENSP00000453346.1:p.Ser306Ala
ENST00000558518.5:c.916T>G ENSP00000454071.1:p.Ser306Ala
ENST00000558528.1:n.431T>G
ENST00000560467.1:c.516T>G
NM_000527.4:c.916T>G , LRG_274t1:c.916T>G NP_000518.1:p.Ser306Ala
NM_001195798.1:c.916T>G NP_001182727.1:p.Ser306Ala
NM_001195799.1:c.793T>G NP_001182728.1:p.Ser265Ala
NM_001195800.1:c.412T>G NP_001182729.1:p.Ser138Ala
NM_001195803.1:c.535T>G NP_001182732.1:p.Ser179Ala
XM_011528010.1:c.916T>G XP_011526312.1:p.Ser306Ala
XM_011528011.1:c.535T>G XP_011526313.1:p.Ser179Ala
XR_244074.2:n.1066T>G
XM_011528010.2:c.916T>G XP_011526312.1:p.Ser306Ala
XR_001753685.2:n.1033T>G
XR_001753686.2:n.1033T>G
NM_000527.5:c.916T>G MANE Select NP_000518.1:p.Ser306Ala
NM_001195798.2:c.916T>G NP_001182727.1:p.Ser306Ala
NM_001195799.2:c.793T>G NP_001182728.1:p.Ser265Ala
NM_001195800.2:c.412T>G NP_001182729.1:p.Ser138Ala
NM_001195803.2:c.535T>G NP_001182732.1:p.Ser179Ala
Search 100 bp 5'
Search 100 bp 3'