Canonical Allele Identifier: CA031066
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 526760
dbSNP Id: rs147905921

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11110704C>T , CM000681.2:g.11110704C>T GRCh38
NC_000019.9:g.11221380C>T , CM000681.1:g.11221380C>T GRCh37
NC_000019.8:g.11082380C>T NCBI36
NG_009060.1:g.26324C>T , LRG_274:g.26324C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.1251C>T ENSP00000252444.6:p.Asp417=
ENST00000559340.2:c.993C>T ENSP00000453696.2:p.Asp331=
ENST00000560467.2:c.941-810C>T ENSP00000453513.2:n.941-810C>T
ENST00000558518.6:c.993C>T MANE Select ENSP00000454071.1:p.Asp331=
ENST00000252444.9:c.1247C>T
ENST00000455727.6:c.489C>T ENSP00000397829.2:p.Asp163=
ENST00000535915.5:c.870C>T ENSP00000440520.1:p.Asp290=
ENST00000545707.5:c.612C>T ENSP00000437639.1:p.Asp204=
ENST00000557933.5:c.993C>T ENSP00000453557.1:p.Asp331=
ENST00000558013.5:c.993C>T ENSP00000453346.1:p.Asp331=
ENST00000558518.5:c.993C>T ENSP00000454071.1:p.Asp331=
ENST00000560467.1:c.541-810C>T
NM_000527.4:c.993C>T , LRG_274t1:c.993C>T NP_000518.1:p.Asp331=
NM_001195798.1:c.993C>T NP_001182727.1:p.Asp331=
NM_001195799.1:c.870C>T NP_001182728.1:p.Asp290=
NM_001195800.1:c.489C>T NP_001182729.1:p.Asp163=
NM_001195803.1:c.612C>T NP_001182732.1:p.Asp204=
XM_011528010.1:c.993C>T XP_011526312.1:p.Asp331=
XM_011528011.1:c.612C>T XP_011526313.1:p.Asp204=
XR_244074.2:n.1143C>T
XM_011528010.2:c.993C>T XP_011526312.1:p.Asp331=
XR_001753685.2:n.1110C>T
XR_001753686.2:n.1110C>T
NM_000527.5:c.993C>T MANE Select NP_000518.1:p.Asp331=
NM_001195798.2:c.993C>T NP_001182727.1:p.Asp331=
NM_001195799.2:c.870C>T NP_001182728.1:p.Asp290=
NM_001195800.2:c.489C>T NP_001182729.1:p.Asp163=
NM_001195803.2:c.612C>T NP_001182732.1:p.Asp204=