Canonical Allele Identifier: CA404086248
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2138225
ClinVar RCV Id: RCV003041352 RCV003318737
gnomAD v4: 19-11113646-G-T
MyVariant Identifiers: chr19:g.11224322G>T (hg19) chr19:g.11113646G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113646G>T , CM000681.2:g.11113646G>T GRCh38
NC_000019.9:g.11224322G>T , CM000681.1:g.11224322G>T GRCh37
NC_000019.8:g.11085322G>T NCBI36
NG_009060.1:g.29266G>T , LRG_274:g.29266G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1728G>T ENSP00000252444.6:p.Trp576Cys
ENST00000559340.2:c.1470G>T ENSP00000453696.2:p.Trp490Cys
ENST00000560467.2:c.1350G>T ENSP00000453513.2:p.Trp450Cys
ENST00000558518.6:c.1470G>T MANE Select ENSP00000454071.1:p.Trp490Cys
ENST00000252444.9:c.1724G>T
ENST00000455727.6:c.966G>T ENSP00000397829.2:p.Trp322Cys
ENST00000535915.5:c.1347G>T ENSP00000440520.1:p.Trp449Cys
ENST00000545707.5:c.1089G>T ENSP00000437639.1:p.Trp363Cys
ENST00000557933.5:c.1470G>T ENSP00000453557.1:p.Trp490Cys
ENST00000558013.5:c.1470G>T ENSP00000453346.1:p.Trp490Cys
ENST00000558518.5:c.1470G>T ENSP00000454071.1:p.Trp490Cys
ENST00000559340.1:c.191G>T
NM_000527.4:c.1470G>T , LRG_274t1:c.1470G>T NP_000518.1:p.Trp490Cys
NM_001195798.1:c.1470G>T NP_001182727.1:p.Trp490Cys
NM_001195799.1:c.1347G>T NP_001182728.1:p.Trp449Cys
NM_001195800.1:c.966G>T NP_001182729.1:p.Trp322Cys
NM_001195803.1:c.1089G>T NP_001182732.1:p.Trp363Cys
XM_011528010.1:c.1470G>T XP_011526312.1:p.Trp490Cys
XM_011528011.1:c.1089G>T XP_011526313.1:p.Trp363Cys
XR_244074.2:n.1620G>T
XM_011528010.2:c.1470G>T XP_011526312.1:p.Trp490Cys
XR_001753685.2:n.1587G>T
XR_001753686.2:n.1587G>T
NM_000527.5:c.1470G>T MANE Select NP_000518.1:p.Trp490Cys
NM_001195798.2:c.1470G>T NP_001182727.1:p.Trp490Cys
NM_001195799.2:c.1347G>T NP_001182728.1:p.Trp449Cys
NM_001195800.2:c.966G>T NP_001182729.1:p.Trp322Cys
NM_001195803.2:c.1089G>T NP_001182732.1:p.Trp363Cys
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