Canonical Allele Identifier: CA033933
Gene: LDLR HGNC NCBI
MIR6886 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 251806
ClinVar RCV Id: RCV000237169
dbSNP Id: rs1003723

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113505C>T , CM000681.2:g.11113505C>T GRCh38
NC_000019.9:g.11224181C>T , CM000681.1:g.11224181C>T GRCh37
NC_000019.8:g.11085181C>T NCBI36
NG_009060.1:g.29125C>T , LRG_274:g.29125C>T

Transcript Alleles

HGVS Amino-acid change
NM_000527.4:c.1359-30C>T , LRG_274t1:c.1359-30C>T (LDLR) NP_000518.1:p.=
NM_001195798.1:c.1359-30C>T (LDLR) VV NP_001182727.1:p.=
NM_001195799.1:c.1236-30C>T (LDLR) VV NP_001182728.1:p.=
NM_001195800.1:c.855-30C>T (LDLR) VV NP_001182729.1:p.=
NM_001195803.1:c.978-30C>T (LDLR) VV NP_001182732.1:p.=
NR_106946.1:n.32C>T (MIR6886)
XM_011528010.1:c.1359-30C>T (LDLR) XP_011526312.1:p.=
XM_011528011.1:c.978-30C>T (LDLR) XP_011526313.1:p.=
XR_244074.2:n.1509-30C>T (LDLR)
XM_011528010.2:c.1359-30C>T (LDLR) XP_011526312.1:p.=
XR_001753685.2:n.1476-30C>T (LDLR)
XR_001753686.2:n.1476-30C>T (LDLR)
ENST00000252444.9:n.1613-30C>T
ENST00000455727.6:c.855-30C>T ENSP00000397829.2:p.=
ENST00000535915.5:c.1236-30C>T ENSP00000440520.1:p.=
ENST00000545707.5:c.978-30C>T ENSP00000437639.1:p.=
ENST00000557933.5:c.1359-30C>T ENSP00000453557.1:p.=
ENST00000558013.5:c.1359-30C>T ENSP00000453346.1:p.=
ENST00000558518.5:c.1359-30C>T ENSP00000454071.1:p.=
ENST00000559340.1:n.80-30C>T
ENST00000560467.1:n.839-30C>T