Canonical Allele Identifier: CA505485545
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 440625
ClinVar RCV Id: RCV000508702 RCV003581675
dbSNP Id: rs1555804729
gnomAD v4: 19-11111545-C-T
MyVariant Identifiers: chr19:g.11222221C>T (hg19) chr19:g.11111545C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11111545C>T , CM000681.2:g.11111545C>T GRCh38
NC_000019.9:g.11222221C>T , CM000681.1:g.11222221C>T GRCh37
NC_000019.8:g.11083221C>T NCBI36
NG_009060.1:g.27165C>T , LRG_274:g.27165C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1350C>T ENSP00000252444.6:p.Cys450=
ENST00000559340.2:c.1092C>T ENSP00000453696.2:p.Cys364=
ENST00000560467.2:c.972C>T ENSP00000453513.2:p.Cys324=
ENST00000558518.6:c.1092C>T MANE Select ENSP00000454071.1:p.Cys364=
ENST00000252444.9:c.1346C>T
ENST00000455727.6:c.588C>T ENSP00000397829.2:p.Cys196=
ENST00000535915.5:c.969C>T ENSP00000440520.1:p.Cys323=
ENST00000545707.5:c.711C>T ENSP00000437639.1:p.Cys237=
ENST00000557933.5:c.1092C>T ENSP00000453557.1:p.Cys364=
ENST00000558013.5:c.1092C>T ENSP00000453346.1:p.Cys364=
ENST00000558518.5:c.1092C>T ENSP00000454071.1:p.Cys364=
ENST00000560173.1:n.91C>T
ENST00000560467.1:c.572C>T
NM_000527.4:c.1092C>T , LRG_274t1:c.1092C>T NP_000518.1:p.Cys364=
NM_001195798.1:c.1092C>T NP_001182727.1:p.Cys364=
NM_001195799.1:c.969C>T NP_001182728.1:p.Cys323=
NM_001195800.1:c.588C>T NP_001182729.1:p.Cys196=
NM_001195803.1:c.711C>T NP_001182732.1:p.Cys237=
XM_011528010.1:c.1092C>T XP_011526312.1:p.Cys364=
XM_011528011.1:c.711C>T XP_011526313.1:p.Cys237=
XR_244074.2:n.1242C>T
XM_011528010.2:c.1092C>T XP_011526312.1:p.Cys364=
XR_001753685.2:n.1209C>T
XR_001753686.2:n.1209C>T
NM_000527.5:c.1092C>T MANE Select NP_000518.1:p.Cys364=
NM_001195798.2:c.1092C>T NP_001182727.1:p.Cys364=
NM_001195799.2:c.969C>T NP_001182728.1:p.Cys323=
NM_001195800.2:c.588C>T NP_001182729.1:p.Cys196=
NM_001195803.2:c.711C>T NP_001182732.1:p.Cys237=
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