Canonical Allele Identifier: CA034999
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 431533
dbSNP Id: rs114891301

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113778G>A , CM000681.2:g.11113778G>A GRCh38
NC_000019.9:g.11224454G>A , CM000681.1:g.11224454G>A GRCh37
NC_000019.8:g.11085454G>A NCBI36
NG_009060.1:g.29398G>A , LRG_274:g.29398G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1844+16G>A ENSP00000252444.6:n.1844+16G>A
ENST00000559340.2:c.1586+16G>A ENSP00000453696.2:n.1586+16G>A
ENST00000560467.2:c.1466+16G>A ENSP00000453513.2:n.1466+16G>A
ENST00000558518.6:c.1586+16G>A MANE Select ENSP00000454071.1:n.1586+16G>A
ENST00000252444.9:c.1840+16G>A
ENST00000455727.6:c.1082+16G>A ENSP00000397829.2:n.1082+16G>A
ENST00000535915.5:c.1463+16G>A ENSP00000440520.1:n.1463+16G>A
ENST00000545707.5:c.1205+16G>A ENSP00000437639.1:n.1205+16G>A
ENST00000557933.5:c.1586+16G>A ENSP00000453557.1:n.1586+16G>A
ENST00000558013.5:c.1586+16G>A ENSP00000453346.1:n.1586+16G>A
ENST00000558518.5:c.1586+16G>A ENSP00000454071.1:n.1586+16G>A
ENST00000559340.1:c.307+16G>A
NM_000527.4:c.1586+16G>A , LRG_274t1:c.1586+16G>A NP_000518.1:n.1586+16G>A
NM_001195798.1:c.1586+16G>A NP_001182727.1:n.1586+16G>A
NM_001195799.1:c.1463+16G>A NP_001182728.1:n.1463+16G>A
NM_001195800.1:c.1082+16G>A NP_001182729.1:n.1082+16G>A
NM_001195803.1:c.1205+16G>A NP_001182732.1:n.1205+16G>A
XM_011528010.1:c.1586+16G>A XP_011526312.1:n.1586+16G>A
XM_011528011.1:c.1205+16G>A XP_011526313.1:n.1205+16G>A
XR_244074.2:n.1736+16G>A
XM_011528010.2:c.1586+16G>A XP_011526312.1:n.1586+16G>A
XR_001753685.2:n.1703+16G>A
XR_001753686.2:n.1703+16G>A
NM_000527.5:c.1586+16G>A MANE Select NP_000518.1:n.1586+16G>A
NM_001195798.2:c.1586+16G>A NP_001182727.1:n.1586+16G>A
NM_001195799.2:c.1463+16G>A NP_001182728.1:n.1463+16G>A
NM_001195800.2:c.1082+16G>A NP_001182729.1:n.1082+16G>A
NM_001195803.2:c.1205+16G>A NP_001182732.1:n.1205+16G>A