Canonical Allele Identifier: CA10585423
Gene: LDLR HGNC NCBI
MIR6886 HGNC NCBI

Linked Data

ClinVar Variation Id: 251809
ClinVar RCV Id: RCV000237177
dbSNP Id: rs879254878

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113531T>C , CM000681.2:g.11113531T>C GRCh38
NC_000019.9:g.11224207T>C , CM000681.1:g.11224207T>C GRCh37
NC_000019.8:g.11085207T>C NCBI36
NG_009060.1:g.29151T>C , LRG_274:g.29151T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.1617-4T>C (LDLR) ENSP00000252444.6:n.1617-4T>C
ENST00000559340.2:c.1359-4T>C (LDLR) ENSP00000453696.2:n.1359-4T>C
ENST00000560467.2:c.1239-4T>C (LDLR) ENSP00000453513.2:n.1239-4T>C
ENST00000558518.6:c.1359-4T>C (LDLR) MANE Select ENSP00000454071.1:n.1359-4T>C
ENST00000252444.9:c.1613-4T>C (LDLR)
ENST00000455727.6:c.855-4T>C (LDLR) ENSP00000397829.2:n.855-4T>C
ENST00000535915.5:c.1236-4T>C (LDLR) ENSP00000440520.1:n.1236-4T>C
ENST00000545707.5:c.978-4T>C (LDLR) ENSP00000437639.1:n.978-4T>C
ENST00000557933.5:c.1359-4T>C (LDLR) ENSP00000453557.1:n.1359-4T>C
ENST00000558013.5:c.1359-4T>C (LDLR) ENSP00000453346.1:n.1359-4T>C
ENST00000558518.5:c.1359-4T>C (LDLR) ENSP00000454071.1:n.1359-4T>C
ENST00000559340.1:c.80-4T>C (LDLR)
ENST00000560467.1:c.839-4T>C (LDLR)
NM_000527.4:c.1359-4T>C , LRG_274t1:c.1359-4T>C (LDLR) NP_000518.1:n.1359-4T>C
NM_001195798.1:c.1359-4T>C (LDLR) NP_001182727.1:n.1359-4T>C
NM_001195799.1:c.1236-4T>C (LDLR) NP_001182728.1:n.1236-4T>C
NM_001195800.1:c.855-4T>C (LDLR) NP_001182729.1:n.855-4T>C
NM_001195803.1:c.978-4T>C (LDLR) NP_001182732.1:n.978-4T>C
NR_106946.1:n.58T>C (MIR6886)
XM_011528010.1:c.1359-4T>C (LDLR) XP_011526312.1:n.1359-4T>C
XM_011528011.1:c.978-4T>C (LDLR) XP_011526313.1:n.978-4T>C
XR_244074.2:n.1509-4T>C (LDLR)
XM_011528010.2:c.1359-4T>C (LDLR) XP_011526312.1:n.1359-4T>C
XR_001753685.2:n.1476-4T>C (LDLR)
XR_001753686.2:n.1476-4T>C (LDLR)
NM_000527.5:c.1359-4T>C (LDLR) MANE Select NP_000518.1:n.1359-4T>C
NM_001195798.2:c.1359-4T>C (LDLR) NP_001182727.1:n.1359-4T>C
NM_001195799.2:c.1236-4T>C (LDLR) NP_001182728.1:n.1236-4T>C
NM_001195800.2:c.855-4T>C (LDLR) NP_001182729.1:n.855-4T>C
NM_001195803.2:c.978-4T>C (LDLR) NP_001182732.1:n.978-4T>C