Canonical Allele Identifier: CA10585442
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251832
ClinVar RCV Id: RCV000237941
dbSNP Id: rs879254894

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113593A>G , CM000681.2:g.11113593A>G GRCh38
NC_000019.9:g.11224269A>G , CM000681.1:g.11224269A>G GRCh37
NC_000019.8:g.11085269A>G NCBI36
NG_009060.1:g.29213A>G , LRG_274:g.29213A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1675A>G ENSP00000252444.6:p.Ile559Val
ENST00000559340.2:c.1417A>G ENSP00000453696.2:p.Ile473Val
ENST00000560467.2:c.1297A>G ENSP00000453513.2:p.Ile433Val
ENST00000558518.6:c.1417A>G MANE Select ENSP00000454071.1:p.Ile473Val
ENST00000252444.9:c.1671A>G
ENST00000455727.6:c.913A>G ENSP00000397829.2:p.Ile305Val
ENST00000535915.5:c.1294A>G ENSP00000440520.1:p.Ile432Val
ENST00000545707.5:c.1036A>G ENSP00000437639.1:p.Ile346Val
ENST00000557933.5:c.1417A>G ENSP00000453557.1:p.Ile473Val
ENST00000558013.5:c.1417A>G ENSP00000453346.1:p.Ile473Val
ENST00000558518.5:c.1417A>G ENSP00000454071.1:p.Ile473Val
ENST00000559340.1:c.138A>G
ENST00000560467.1:c.897A>G
NM_000527.4:c.1417A>G , LRG_274t1:c.1417A>G NP_000518.1:p.Ile473Val
NM_001195798.1:c.1417A>G NP_001182727.1:p.Ile473Val
NM_001195799.1:c.1294A>G NP_001182728.1:p.Ile432Val
NM_001195800.1:c.913A>G NP_001182729.1:p.Ile305Val
NM_001195803.1:c.1036A>G NP_001182732.1:p.Ile346Val
XM_011528010.1:c.1417A>G XP_011526312.1:p.Ile473Val
XM_011528011.1:c.1036A>G XP_011526313.1:p.Ile346Val
XR_244074.2:n.1567A>G
XM_011528010.2:c.1417A>G XP_011526312.1:p.Ile473Val
XR_001753685.2:n.1534A>G
XR_001753686.2:n.1534A>G
NM_000527.5:c.1417A>G MANE Select NP_000518.1:p.Ile473Val
NM_001195798.2:c.1417A>G NP_001182727.1:p.Ile473Val
NM_001195799.2:c.1294A>G NP_001182728.1:p.Ile432Val
NM_001195800.2:c.913A>G NP_001182729.1:p.Ile305Val
NM_001195803.2:c.1036A>G NP_001182732.1:p.Ile346Val