Canonical Allele Identifier: CA505743509
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 440592
dbSNP Id: rs756613387

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105572C>T , CM000681.2:g.11105572C>T GRCh38
NC_000019.9:g.11216248C>T , CM000681.1:g.11216248C>T GRCh37
NC_000019.8:g.11077248C>T NCBI36
NG_009060.1:g.21192C>T , LRG_274:g.21192C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.924C>T ENSP00000252444.6:p.Cys308=
ENST00000559340.2:c.666C>T ENSP00000453696.2:p.Cys222=
ENST00000560467.2:c.666C>T ENSP00000453513.2:p.Cys222=
ENST00000558518.6:c.666C>T MANE Select ENSP00000454071.1:p.Cys222=
ENST00000252444.9:c.920C>T
ENST00000455727.6:c.314-1820C>T ENSP00000397829.2:n.314-1820C>T
ENST00000535915.5:c.543C>T ENSP00000440520.1:p.Cys181=
ENST00000545707.5:c.314-993C>T ENSP00000437639.1:n.314-993C>T
ENST00000557933.5:c.666C>T ENSP00000453557.1:p.Cys222=
ENST00000558013.5:c.666C>T ENSP00000453346.1:p.Cys222=
ENST00000558518.5:c.666C>T ENSP00000454071.1:p.Cys222=
ENST00000560467.1:c.266C>T
NM_000527.4:c.666C>T , LRG_274t1:c.666C>T NP_000518.1:p.Cys222=
NM_001195798.1:c.666C>T NP_001182727.1:p.Cys222=
NM_001195799.1:c.543C>T NP_001182728.1:p.Cys181=
NM_001195800.1:c.314-1820C>T NP_001182729.1:n.314-1820C>T
NM_001195803.1:c.314-993C>T NP_001182732.1:n.314-993C>T
XM_011528010.1:c.666C>T XP_011526312.1:p.Cys222=
XM_011528011.1:c.314-993C>T XP_011526313.1:n.314-993C>T
XR_244074.2:n.816C>T
XM_011528010.2:c.666C>T XP_011526312.1:p.Cys222=
XR_001753685.2:n.783C>T
XR_001753686.2:n.783C>T
NM_000527.5:c.666C>T MANE Select NP_000518.1:p.Cys222=
NM_001195798.2:c.666C>T NP_001182727.1:p.Cys222=
NM_001195799.2:c.543C>T NP_001182728.1:p.Cys181=
NM_001195800.2:c.314-1820C>T NP_001182729.1:n.314-1820C>T
NM_001195803.2:c.314-993C>T NP_001182732.1:n.314-993C>T