Canonical Allele Identifier: CA404096599
Gene: LDLR HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.11238687T>G (hg19) chr19:g.11128011T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11128011T>G , CM000681.2:g.11128011T>G GRCh38
NC_000019.9:g.11238687T>G , CM000681.1:g.11238687T>G GRCh37
NC_000019.8:g.11099687T>G NCBI36
NG_009060.1:g.43631T>G , LRG_274:g.43631T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2573T>G ENSP00000252444.6:p.Leu858Arg
ENST00000559340.2:c.*384T>G ENSP00000453696.2:n.*384T>G
ENST00000560467.2:c.2195T>G ENSP00000453513.2:p.Leu732Arg
ENST00000558518.6:c.2315T>G MANE Select ENSP00000454071.1:p.Leu772Arg
ENST00000252444.9:c.2569T>G
ENST00000455727.6:c.1811T>G ENSP00000397829.2:p.Leu604Arg
ENST00000535915.5:c.2192T>G ENSP00000440520.1:p.Leu731Arg
ENST00000545707.5:c.1781T>G ENSP00000437639.1:p.Leu594Arg
ENST00000557933.5:c.2315T>G ENSP00000453557.1:p.Leu772Arg
ENST00000558013.5:c.2315T>G ENSP00000453346.1:p.Leu772Arg
ENST00000558518.5:c.2315T>G ENSP00000454071.1:p.Leu772Arg
ENST00000560628.1:n.108+357T>G
NM_000527.4:c.2315T>G , LRG_274t1:c.2315T>G NP_000518.1:p.Leu772Arg
NM_001195798.1:c.2315T>G NP_001182727.1:p.Leu772Arg
NM_001195799.1:c.2192T>G NP_001182728.1:p.Leu731Arg
NM_001195800.1:c.1811T>G NP_001182729.1:p.Leu604Arg
NM_001195803.1:c.1781T>G NP_001182732.1:p.Leu594Arg
XM_011528010.1:c.2312-1502T>G XP_011526312.1:n.2312-1502T>G
XM_011528011.1:c.1934T>G XP_011526313.1:p.Leu645Arg
XR_244074.2:n.2325T>G
XM_011528010.2:c.2312-1502T>G XP_011526312.1:n.2312-1502T>G
XR_001753685.2:n.2649T>G
XR_001753686.2:n.2292T>G
NM_000527.5:c.2315T>G MANE Select NP_000518.1:p.Leu772Arg
NM_001195798.2:c.2315T>G NP_001182727.1:p.Leu772Arg
NM_001195799.2:c.2192T>G NP_001182728.1:p.Leu731Arg
NM_001195800.2:c.1811T>G NP_001182729.1:p.Leu604Arg
NM_001195803.2:c.1781T>G NP_001182732.1:p.Leu594Arg
Search 100 bp 5'
Search 100 bp 3'