Canonical Allele Identifier: CA404089812
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 431536
ClinVar RCV Id: RCV000497050
dbSNP Id: rs1135402778
MyVariant Identifiers: chr19:g.11227633G>T (hg19) chr19:g.11116957G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11116957G>T , CM000681.2:g.11116957G>T GRCh38
NC_000019.9:g.11227633G>T , CM000681.1:g.11227633G>T GRCh37
NC_000019.8:g.11088633G>T NCBI36
NG_009060.1:g.32577G>T , LRG_274:g.32577G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.2062G>T ENSP00000252444.6:p.Glu688Ter
ENST00000559340.2:c.1705+745G>T ENSP00000453696.2:n.1705+745G>T
ENST00000560467.2:c.1684G>T ENSP00000453513.2:p.Glu562Ter
ENST00000558518.6:c.1804G>T MANE Select ENSP00000454071.1:p.Glu602Ter
ENST00000252444.9:c.2058G>T
ENST00000455727.6:c.1300G>T ENSP00000397829.2:p.Glu434Ter
ENST00000535915.5:c.1681G>T ENSP00000440520.1:p.Glu561Ter
ENST00000545707.5:c.1423G>T ENSP00000437639.1:p.Glu475Ter
ENST00000557933.5:c.1804G>T ENSP00000453557.1:p.Glu602Ter
ENST00000558013.5:c.1804G>T ENSP00000453346.1:p.Glu602Ter
ENST00000558518.5:c.1804G>T ENSP00000454071.1:p.Glu602Ter
ENST00000559340.1:c.426+745G>T
NM_000527.4:c.1804G>T , LRG_274t1:c.1804G>T NP_000518.1:p.Glu602Ter
NM_001195798.1:c.1804G>T NP_001182727.1:p.Glu602Ter
NM_001195799.1:c.1681G>T NP_001182728.1:p.Glu561Ter
NM_001195800.1:c.1300G>T NP_001182729.1:p.Glu434Ter
NM_001195803.1:c.1423G>T NP_001182732.1:p.Glu475Ter
XM_011528010.1:c.1804G>T XP_011526312.1:p.Glu602Ter
XM_011528011.1:c.1423G>T XP_011526313.1:p.Glu475Ter
XR_244074.2:n.1855+745G>T
XM_011528010.2:c.1804G>T XP_011526312.1:p.Glu602Ter
XR_001753685.2:n.1921G>T
XR_001753686.2:n.1822+745G>T
NM_000527.5:c.1804G>T MANE Select NP_000518.1:p.Glu602Ter
NM_001195798.2:c.1804G>T NP_001182727.1:p.Glu602Ter
NM_001195799.2:c.1681G>T NP_001182728.1:p.Glu561Ter
NM_001195800.2:c.1300G>T NP_001182729.1:p.Glu434Ter
NM_001195803.2:c.1423G>T NP_001182732.1:p.Glu475Ter
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