Canonical Allele Identifier: CA404099460
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 793943
ClinVar RCV Id: RCV000977159 RCV002427411
dbSNP Id: rs1600765476
gnomAD v4: 19-11129619-A-G
MyVariant Identifiers: chr19:g.11240295A>G (hg19) chr19:g.11129619A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129619A>G , CM000681.2:g.11129619A>G GRCh38
NC_000019.9:g.11240295A>G , CM000681.1:g.11240295A>G GRCh37
NC_000019.8:g.11101295A>G NCBI36
NG_009060.1:g.45239A>G , LRG_274:g.45239A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2754A>G ENSP00000252444.6:p.Thr918=
ENST00000559340.2:c.*565A>G ENSP00000453696.2:n.*565A>G
ENST00000560467.2:c.2376A>G ENSP00000453513.2:p.Thr792=
ENST00000558518.6:c.2496A>G MANE Select ENSP00000454071.1:p.Thr832=
ENST00000252444.9:c.2750A>G
ENST00000455727.6:c.1992A>G ENSP00000397829.2:p.Thr664=
ENST00000535915.5:c.2373A>G ENSP00000440520.1:p.Thr791=
ENST00000545707.5:c.1962A>G ENSP00000437639.1:p.Thr654=
ENST00000557933.5:c.2558A>G ENSP00000453557.1:p.Gln853Arg
ENST00000558013.5:c.2496A>G ENSP00000453346.1:p.Thr832=
ENST00000558518.5:c.2496A>G ENSP00000454071.1:p.Thr832=
ENST00000560628.1:n.108+1965A>G
NM_000527.4:c.2496A>G , LRG_274t1:c.2496A>G NP_000518.1:p.Thr832=
NM_001195798.1:c.2496A>G NP_001182727.1:p.Thr832=
NM_001195799.1:c.2373A>G NP_001182728.1:p.Thr791=
NM_001195800.1:c.1992A>G NP_001182729.1:p.Thr664=
NM_001195803.1:c.1962A>G NP_001182732.1:p.Thr654=
XM_011528010.1:c.2418A>G XP_011526312.1:p.Thr806=
XM_011528011.1:c.2115A>G XP_011526313.1:p.Thr705=
XM_011528010.2:c.2418A>G XP_011526312.1:p.Thr806=
XR_001753685.2:n.2830A>G
XR_001753686.2:n.2473A>G
NM_000527.5:c.2496A>G MANE Select NP_000518.1:p.Thr832=
NM_001195798.2:c.2496A>G NP_001182727.1:p.Thr832=
NM_001195799.2:c.2373A>G NP_001182728.1:p.Thr791=
NM_001195800.2:c.1992A>G NP_001182729.1:p.Thr664=
NM_001195803.2:c.1962A>G NP_001182732.1:p.Thr654=
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