Canonical Allele Identifier: CA505487460
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1630068
ClinVar RCV Id: RCV002118792 RCV003161595 RCV003235679
dbSNP Id: rs377563758
gnomAD v4: 19-11128015-C-A
MyVariant Identifiers: chr19:g.11238691C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11128015C>A , CM000681.2:g.11128015C>A GRCh38
NC_000019.9:g.11238691C>A , CM000681.1:g.11238691C>A GRCh37
NC_000019.8:g.11099691C>A NCBI36
NG_009060.1:g.43635C>A , LRG_274:g.43635C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2577C>A ENSP00000252444.6:p.Gly859=
ENST00000559340.2:c.*388C>A ENSP00000453696.2:n.*388C>A
ENST00000560467.2:c.2199C>A ENSP00000453513.2:p.Gly733=
ENST00000558518.6:c.2319C>A MANE Select ENSP00000454071.1:p.Gly773=
ENST00000252444.9:c.2573C>A
ENST00000455727.6:c.1815C>A ENSP00000397829.2:p.Gly605=
ENST00000535915.5:c.2196C>A ENSP00000440520.1:p.Gly732=
ENST00000545707.5:c.1785C>A ENSP00000437639.1:p.Gly595=
ENST00000557933.5:c.2319C>A ENSP00000453557.1:p.Gly773=
ENST00000558013.5:c.2319C>A ENSP00000453346.1:p.Gly773=
ENST00000558518.5:c.2319C>A ENSP00000454071.1:p.Gly773=
ENST00000560628.1:n.108+361C>A
NM_000527.4:c.2319C>A , LRG_274t1:c.2319C>A NP_000518.1:p.Gly773=
NM_001195798.1:c.2319C>A NP_001182727.1:p.Gly773=
NM_001195799.1:c.2196C>A NP_001182728.1:p.Gly732=
NM_001195800.1:c.1815C>A NP_001182729.1:p.Gly605=
NM_001195803.1:c.1785C>A NP_001182732.1:p.Gly595=
XM_011528010.1:c.2312-1498C>A XP_011526312.1:n.2312-1498C>A
XM_011528011.1:c.1938C>A XP_011526313.1:p.Gly646=
XR_244074.2:n.2329C>A
XM_011528010.2:c.2312-1498C>A XP_011526312.1:n.2312-1498C>A
XR_001753685.2:n.2653C>A
XR_001753686.2:n.2296C>A
NM_000527.5:c.2319C>A MANE Select NP_000518.1:p.Gly773=
NM_001195798.2:c.2319C>A NP_001182727.1:p.Gly773=
NM_001195799.2:c.2196C>A NP_001182728.1:p.Gly732=
NM_001195800.2:c.1815C>A NP_001182729.1:p.Gly605=
NM_001195803.2:c.1785C>A NP_001182732.1:p.Gly595=
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