Canonical Allele Identifier: CA404074852
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 996231
ClinVar RCV Id: RCV001290542 RCV002227267
dbSNP Id: rs778284147
MyVariant Identifiers: chr19:g.11210970G>T (hg19) chr19:g.11100294G>T (hg38)
ERepo: CA404074852/MONDO:0007750/013
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11100294G>T , CM000681.2:g.11100294G>T GRCh38
NC_000019.9:g.11210970G>T , CM000681.1:g.11210970G>T GRCh37
NC_000019.8:g.11071970G>T NCBI36
NG_009060.1:g.15914G>T , LRG_274:g.15914G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.397G>T ENSP00000252444.6:p.Asp133Tyr
ENST00000559340.2:c.139G>T ENSP00000453696.2:p.Asp47Tyr
ENST00000560467.2:c.139G>T ENSP00000453513.2:p.Asp47Tyr
ENST00000558518.6:c.139G>T MANE Select ENSP00000454071.1:p.Asp47Tyr
ENST00000252444.9:c.393G>T
ENST00000455727.6:c.139G>T ENSP00000397829.2:p.Asp47Tyr
ENST00000535915.5:c.139G>T ENSP00000440520.1:p.Asp47Tyr
ENST00000545707.5:c.139G>T ENSP00000437639.1:p.Asp47Tyr
ENST00000557933.5:c.139G>T ENSP00000453557.1:p.Asp47Tyr
ENST00000557958.1:n.225G>T
ENST00000558013.5:c.139G>T ENSP00000453346.1:p.Asp47Tyr
ENST00000558518.5:c.139G>T ENSP00000454071.1:p.Asp47Tyr
ENST00000560502.5:n.225G>T
NM_000527.4:c.139G>T , LRG_274t1:c.139G>T NP_000518.1:p.Asp47Tyr
NM_001195798.1:c.139G>T NP_001182727.1:p.Asp47Tyr
NM_001195799.1:c.139G>T NP_001182728.1:p.Asp47Tyr
NM_001195800.1:c.139G>T NP_001182729.1:p.Asp47Tyr
NM_001195803.1:c.139G>T NP_001182732.1:p.Asp47Tyr
XM_011528010.1:c.139G>T XP_011526312.1:p.Asp47Tyr
XM_011528011.1:c.139G>T XP_011526313.1:p.Asp47Tyr
XR_244074.2:n.289G>T
XM_011528010.2:c.139G>T XP_011526312.1:p.Asp47Tyr
XR_001753685.2:n.256G>T
XR_001753686.2:n.256G>T
NM_000527.5:c.139G>T MANE Select NP_000518.1:p.Asp47Tyr
NM_001195798.2:c.139G>T NP_001182727.1:p.Asp47Tyr
NM_001195799.2:c.139G>T NP_001182728.1:p.Asp47Tyr
NM_001195800.2:c.139G>T NP_001182729.1:p.Asp47Tyr
NM_001195803.2:c.139G>T NP_001182732.1:p.Asp47Tyr
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