Canonical Allele Identifier: CA023452
Gene: LDLR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 3741
dbSNP Id: rs267607213

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11100286G>A , CM000681.2:g.11100286G>A GRCh38
NC_000019.9:g.11210962G>A , CM000681.1:g.11210962G>A GRCh37
NC_000019.8:g.11071962G>A NCBI36
NG_009060.1:g.15906G>A , LRG_274:g.15906G>A

Transcript Alleles

HGVS Amino-acid change
NM_000527.4:c.131G>A , LRG_274t1:c.131G>A NP_000518.1:p.Trp44Ter
NM_001195798.1:c.131G>A VV NP_001182727.1:p.Trp44Ter
NM_001195799.1:c.131G>A VV NP_001182728.1:p.Trp44Ter
NM_001195800.1:c.131G>A VV NP_001182729.1:p.Trp44Ter
NM_001195803.1:c.131G>A VV NP_001182732.1:p.Trp44Ter
XM_011528010.1:c.131G>A XP_011526312.1:p.Trp44Ter
XM_011528011.1:c.131G>A XP_011526313.1:p.Trp44Ter
XR_244074.2:n.281G>A
XM_011528010.2:c.131G>A XP_011526312.1:p.Trp44Ter
XR_001753685.2:n.248G>A
XR_001753686.2:n.248G>A
ENST00000252444.9:n.385G>A
ENST00000455727.6:c.131G>A ENSP00000397829.2:p.Trp44Ter
ENST00000535915.5:c.131G>A ENSP00000440520.1:p.Trp44Ter
ENST00000545707.5:c.131G>A ENSP00000437639.1:p.Trp44Ter
ENST00000557933.5:c.131G>A ENSP00000453557.1:p.Trp44Ter
ENST00000557958.1:n.217G>A
ENST00000558013.5:c.131G>A ENSP00000453346.1:p.Trp44Ter
ENST00000558518.5:c.131G>A ENSP00000454071.1:p.Trp44Ter
ENST00000560502.5:n.217G>A