Canonical Allele Identifier: CA404083558
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2696786
ClinVar RCV Id: RCV003582186
MyVariant Identifiers: chr19:g.11222252T>G (hg19) chr19:g.11111576T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11111576T>G , CM000681.2:g.11111576T>G GRCh38
NC_000019.9:g.11222252T>G , CM000681.1:g.11222252T>G GRCh37
NC_000019.8:g.11083252T>G NCBI36
NG_009060.1:g.27196T>G , LRG_274:g.27196T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1381T>G ENSP00000252444.6:p.Tyr461Asp
ENST00000559340.2:c.1123T>G ENSP00000453696.2:p.Tyr375Asp
ENST00000560467.2:c.1003T>G ENSP00000453513.2:p.Tyr335Asp
ENST00000558518.6:c.1123T>G MANE Select ENSP00000454071.1:p.Tyr375Asp
ENST00000252444.9:c.1377T>G
ENST00000455727.6:c.619T>G ENSP00000397829.2:p.Tyr207Asp
ENST00000535915.5:c.1000T>G ENSP00000440520.1:p.Tyr334Asp
ENST00000545707.5:c.742T>G ENSP00000437639.1:p.Tyr248Asp
ENST00000557933.5:c.1123T>G ENSP00000453557.1:p.Tyr375Asp
ENST00000558013.5:c.1123T>G ENSP00000453346.1:p.Tyr375Asp
ENST00000558518.5:c.1123T>G ENSP00000454071.1:p.Tyr375Asp
ENST00000560173.1:n.122T>G
ENST00000560467.1:c.603T>G
NM_000527.4:c.1123T>G , LRG_274t1:c.1123T>G NP_000518.1:p.Tyr375Asp
NM_001195798.1:c.1123T>G NP_001182727.1:p.Tyr375Asp
NM_001195799.1:c.1000T>G NP_001182728.1:p.Tyr334Asp
NM_001195800.1:c.619T>G NP_001182729.1:p.Tyr207Asp
NM_001195803.1:c.742T>G NP_001182732.1:p.Tyr248Asp
XM_011528010.1:c.1123T>G XP_011526312.1:p.Tyr375Asp
XM_011528011.1:c.742T>G XP_011526313.1:p.Tyr248Asp
XR_244074.2:n.1273T>G
XM_011528010.2:c.1123T>G XP_011526312.1:p.Tyr375Asp
XR_001753685.2:n.1240T>G
XR_001753686.2:n.1240T>G
NM_000527.5:c.1123T>G MANE Select NP_000518.1:p.Tyr375Asp
NM_001195798.2:c.1123T>G NP_001182727.1:p.Tyr375Asp
NM_001195799.2:c.1000T>G NP_001182728.1:p.Tyr334Asp
NM_001195800.2:c.619T>G NP_001182729.1:p.Tyr207Asp
NM_001195803.2:c.742T>G NP_001182732.1:p.Tyr248Asp
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