Canonical Allele Identifier: CA404089875
Gene: LDLR HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.11227670T>G (hg19) chr19:g.11116994T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11116994T>G , CM000681.2:g.11116994T>G GRCh38
NC_000019.9:g.11227670T>G , CM000681.1:g.11227670T>G GRCh37
NC_000019.8:g.11088670T>G NCBI36
NG_009060.1:g.32614T>G , LRG_274:g.32614T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2099T>G ENSP00000252444.6:p.Phe700Cys
ENST00000559340.2:c.1705+782T>G ENSP00000453696.2:n.1705+782T>G
ENST00000560467.2:c.1721T>G ENSP00000453513.2:p.Phe574Cys
ENST00000558518.6:c.1841T>G MANE Select ENSP00000454071.1:p.Phe614Cys
ENST00000252444.9:c.2095T>G
ENST00000455727.6:c.1337T>G ENSP00000397829.2:p.Phe446Cys
ENST00000535915.5:c.1718T>G ENSP00000440520.1:p.Phe573Cys
ENST00000545707.5:c.1460T>G ENSP00000437639.1:p.Phe487Cys
ENST00000557933.5:c.1841T>G ENSP00000453557.1:p.Phe614Cys
ENST00000558013.5:c.1841T>G ENSP00000453346.1:p.Phe614Cys
ENST00000558518.5:c.1841T>G ENSP00000454071.1:p.Phe614Cys
ENST00000559340.1:c.426+782T>G
NM_000527.4:c.1841T>G , LRG_274t1:c.1841T>G NP_000518.1:p.Phe614Cys
NM_001195798.1:c.1841T>G NP_001182727.1:p.Phe614Cys
NM_001195799.1:c.1718T>G NP_001182728.1:p.Phe573Cys
NM_001195800.1:c.1337T>G NP_001182729.1:p.Phe446Cys
NM_001195803.1:c.1460T>G NP_001182732.1:p.Phe487Cys
XM_011528010.1:c.1841T>G XP_011526312.1:p.Phe614Cys
XM_011528011.1:c.1460T>G XP_011526313.1:p.Phe487Cys
XR_244074.2:n.1855+782T>G
XM_011528010.2:c.1841T>G XP_011526312.1:p.Phe614Cys
XR_001753685.2:n.1958T>G
XR_001753686.2:n.1822+782T>G
NM_000527.5:c.1841T>G MANE Select NP_000518.1:p.Phe614Cys
NM_001195798.2:c.1841T>G NP_001182727.1:p.Phe614Cys
NM_001195799.2:c.1718T>G NP_001182728.1:p.Phe573Cys
NM_001195800.2:c.1337T>G NP_001182729.1:p.Phe446Cys
NM_001195803.2:c.1460T>G NP_001182732.1:p.Phe487Cys
Search 100 bp 5'
Search 100 bp 3'