Canonical Allele Identifier: CA404093553
Gene: LDLR HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.11231087T>G (hg19) chr19:g.11120411T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120411T>G , CM000681.2:g.11120411T>G GRCh38
NC_000019.9:g.11231087T>G , CM000681.1:g.11231087T>G GRCh37
NC_000019.8:g.11092087T>G NCBI36
NG_009060.1:g.36031T>G , LRG_274:g.36031T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2287T>G ENSP00000252444.6:p.Cys763Gly
ENST00000559340.2:c.*98T>G ENSP00000453696.2:n.*98T>G
ENST00000560467.2:c.1909T>G ENSP00000453513.2:p.Cys637Gly
ENST00000558518.6:c.2029T>G MANE Select ENSP00000454071.1:p.Cys677Gly
ENST00000252444.9:c.2283T>G
ENST00000455727.6:c.1525T>G ENSP00000397829.2:p.Cys509Gly
ENST00000535915.5:c.1906T>G ENSP00000440520.1:p.Cys636Gly
ENST00000545707.5:c.1606+178T>G ENSP00000437639.1:n.1606+178T>G
ENST00000557933.5:c.2029T>G ENSP00000453557.1:p.Cys677Gly
ENST00000558013.5:c.2029T>G ENSP00000453346.1:p.Cys677Gly
ENST00000558518.5:c.2029T>G ENSP00000454071.1:p.Cys677Gly
NM_000527.4:c.2029T>G , LRG_274t1:c.2029T>G NP_000518.1:p.Cys677Gly
NM_001195798.1:c.2029T>G NP_001182727.1:p.Cys677Gly
NM_001195799.1:c.1906T>G NP_001182728.1:p.Cys636Gly
NM_001195800.1:c.1525T>G NP_001182729.1:p.Cys509Gly
NM_001195803.1:c.1606+178T>G NP_001182732.1:n.1606+178T>G
XM_011528010.1:c.2029T>G XP_011526312.1:p.Cys677Gly
XM_011528011.1:c.1648T>G XP_011526313.1:p.Cys550Gly
XR_244074.2:n.2039T>G
XM_011528010.2:c.2029T>G XP_011526312.1:p.Cys677Gly
XR_001753685.2:n.2146T>G
XR_001753686.2:n.2006T>G
NM_000527.5:c.2029T>G MANE Select NP_000518.1:p.Cys677Gly
NM_001195798.2:c.2029T>G NP_001182727.1:p.Cys677Gly
NM_001195799.2:c.1906T>G NP_001182728.1:p.Cys636Gly
NM_001195800.2:c.1525T>G NP_001182729.1:p.Cys509Gly
NM_001195803.2:c.1606+178T>G NP_001182732.1:n.1606+178T>G
Search 100 bp 5'
Search 100 bp 3'