Canonical Allele Identifier: CA16609815
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 403640
ClinVar RCV Id: RCV000455239
dbSNP Id: rs1060499924

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113454G>T , CM000681.2:g.11113454G>T GRCh38
NC_000019.9:g.11224130G>T , CM000681.1:g.11224130G>T GRCh37
NC_000019.8:g.11085130G>T NCBI36
NG_009060.1:g.29074G>T , LRG_274:g.29074G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.1616+5G>T ENSP00000252444.6:n.1616+5G>T
ENST00000559340.2:c.1358+5G>T ENSP00000453696.2:n.1358+5G>T
ENST00000560467.2:c.1238+5G>T ENSP00000453513.2:n.1238+5G>T
ENST00000558518.6:c.1358+5G>T MANE Select ENSP00000454071.1:n.1358+5G>T
ENST00000252444.9:c.1612+5G>T
ENST00000455727.6:c.854+5G>T ENSP00000397829.2:n.854+5G>T
ENST00000535915.5:c.1235+5G>T ENSP00000440520.1:n.1235+5G>T
ENST00000545707.5:c.977+5G>T ENSP00000437639.1:n.977+5G>T
ENST00000557933.5:c.1358+5G>T ENSP00000453557.1:n.1358+5G>T
ENST00000558013.5:c.1358+5G>T ENSP00000453346.1:n.1358+5G>T
ENST00000558518.5:c.1358+5G>T ENSP00000454071.1:n.1358+5G>T
ENST00000559340.1:c.79+5G>T
ENST00000560173.1:n.362G>T
ENST00000560467.1:c.838+5G>T
NM_000527.4:c.1358+5G>T , LRG_274t1:c.1358+5G>T NP_000518.1:n.1358+5G>T
NM_001195798.1:c.1358+5G>T NP_001182727.1:n.1358+5G>T
NM_001195799.1:c.1235+5G>T NP_001182728.1:n.1235+5G>T
NM_001195800.1:c.854+5G>T NP_001182729.1:n.854+5G>T
NM_001195803.1:c.977+5G>T NP_001182732.1:n.977+5G>T
XM_011528010.1:c.1358+5G>T XP_011526312.1:n.1358+5G>T
XM_011528011.1:c.977+5G>T XP_011526313.1:n.977+5G>T
XR_244074.2:n.1508+5G>T
XM_011528010.2:c.1358+5G>T XP_011526312.1:n.1358+5G>T
XR_001753685.2:n.1475+5G>T
XR_001753686.2:n.1475+5G>T
NM_000527.5:c.1358+5G>T MANE Select NP_000518.1:n.1358+5G>T
NM_001195798.2:c.1358+5G>T NP_001182727.1:n.1358+5G>T
NM_001195799.2:c.1235+5G>T NP_001182728.1:n.1235+5G>T
NM_001195800.2:c.854+5G>T NP_001182729.1:n.854+5G>T
NM_001195803.2:c.977+5G>T NP_001182732.1:n.977+5G>T