Canonical Allele Identifier: CA023463
Gene: LDLR HGNC NCBI
MIR6886 HGNC NCBI

Linked Data

ClinVar Variation Id: 162499
dbSNP Id: rs139617694

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113534G>A , CM000681.2:g.11113534G>A GRCh38
NC_000019.9:g.11224210G>A , CM000681.1:g.11224210G>A GRCh37
NC_000019.8:g.11085210G>A NCBI36
NG_009060.1:g.29154G>A , LRG_274:g.29154G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1617-1G>A (LDLR) ENSP00000252444.6:n.1617-1G>A
ENST00000559340.2:c.1359-1G>A (LDLR) ENSP00000453696.2:n.1359-1G>A
ENST00000560467.2:c.1239-1G>A (LDLR) ENSP00000453513.2:n.1239-1G>A
ENST00000558518.6:c.1359-1G>A (LDLR) MANE Select ENSP00000454071.1:n.1359-1G>A
ENST00000252444.9:c.1613-1G>A (LDLR)
ENST00000455727.6:c.855-1G>A (LDLR) ENSP00000397829.2:n.855-1G>A
ENST00000535915.5:c.1236-1G>A (LDLR) ENSP00000440520.1:n.1236-1G>A
ENST00000545707.5:c.978-1G>A (LDLR) ENSP00000437639.1:n.978-1G>A
ENST00000557933.5:c.1359-1G>A (LDLR) ENSP00000453557.1:n.1359-1G>A
ENST00000558013.5:c.1359-1G>A (LDLR) ENSP00000453346.1:n.1359-1G>A
ENST00000558518.5:c.1359-1G>A (LDLR) ENSP00000454071.1:n.1359-1G>A
ENST00000559340.1:c.80-1G>A (LDLR)
ENST00000560467.1:c.839-1G>A (LDLR)
NM_000527.4:c.1359-1G>A , LRG_274t1:c.1359-1G>A (LDLR) NP_000518.1:n.1359-1G>A
NM_001195798.1:c.1359-1G>A (LDLR) NP_001182727.1:n.1359-1G>A
NM_001195799.1:c.1236-1G>A (LDLR) NP_001182728.1:n.1236-1G>A
NM_001195800.1:c.855-1G>A (LDLR) NP_001182729.1:n.855-1G>A
NM_001195803.1:c.978-1G>A (LDLR) NP_001182732.1:n.978-1G>A
NR_106946.1:n.61G>A (MIR6886)
XM_011528010.1:c.1359-1G>A (LDLR) XP_011526312.1:n.1359-1G>A
XM_011528011.1:c.978-1G>A (LDLR) XP_011526313.1:n.978-1G>A
XR_244074.2:n.1509-1G>A (LDLR)
XM_011528010.2:c.1359-1G>A (LDLR) XP_011526312.1:n.1359-1G>A
XR_001753685.2:n.1476-1G>A (LDLR)
XR_001753686.2:n.1476-1G>A (LDLR)
NM_000527.5:c.1359-1G>A (LDLR) MANE Select NP_000518.1:n.1359-1G>A
NM_001195798.2:c.1359-1G>A (LDLR) NP_001182727.1:n.1359-1G>A
NM_001195799.2:c.1236-1G>A (LDLR) NP_001182728.1:n.1236-1G>A
NM_001195800.2:c.855-1G>A (LDLR) NP_001182729.1:n.855-1G>A
NM_001195803.2:c.978-1G>A (LDLR) NP_001182732.1:n.978-1G>A