Canonical Allele Identifier: CA10585704
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252141
dbSNP Id: rs879255094

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120222C>A , CM000681.2:g.11120222C>A GRCh38
NC_000019.9:g.11230898C>A , CM000681.1:g.11230898C>A GRCh37
NC_000019.8:g.11091898C>A NCBI36
NG_009060.1:g.35842C>A , LRG_274:g.35842C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2234C>A ENSP00000252444.6:p.Thr745Asn
ENST00000559340.2:c.*45C>A ENSP00000453696.2:n.*45C>A
ENST00000560467.2:c.1856C>A ENSP00000453513.2:p.Thr619Asn
ENST00000558518.6:c.1976C>A MANE Select ENSP00000454071.1:p.Thr659Asn
ENST00000252444.9:c.2230C>A
ENST00000455727.6:c.1472C>A ENSP00000397829.2:p.Thr491Asn
ENST00000535915.5:c.1853C>A ENSP00000440520.1:p.Thr618Asn
ENST00000545707.5:c.1595C>A ENSP00000437639.1:p.Thr532Asn
ENST00000557933.5:c.1976C>A ENSP00000453557.1:p.Thr659Asn
ENST00000558013.5:c.1976C>A ENSP00000453346.1:p.Thr659Asn
ENST00000558518.5:c.1976C>A ENSP00000454071.1:p.Thr659Asn
ENST00000559340.1:c.557C>A
NM_000527.4:c.1976C>A , LRG_274t1:c.1976C>A NP_000518.1:p.Thr659Asn
NM_001195798.1:c.1976C>A NP_001182727.1:p.Thr659Asn
NM_001195799.1:c.1853C>A NP_001182728.1:p.Thr618Asn
NM_001195800.1:c.1472C>A NP_001182729.1:p.Thr491Asn
NM_001195803.1:c.1595C>A NP_001182732.1:p.Thr532Asn
XM_011528010.1:c.1976C>A XP_011526312.1:p.Thr659Asn
XM_011528011.1:c.1595C>A XP_011526313.1:p.Thr532Asn
XR_244074.2:n.1986C>A
XM_011528010.2:c.1976C>A XP_011526312.1:p.Thr659Asn
XR_001753685.2:n.2093C>A
XR_001753686.2:n.1953C>A
NM_000527.5:c.1976C>A MANE Select NP_000518.1:p.Thr659Asn
NM_001195798.2:c.1976C>A NP_001182727.1:p.Thr659Asn
NM_001195799.2:c.1853C>A NP_001182728.1:p.Thr618Asn
NM_001195800.2:c.1472C>A NP_001182729.1:p.Thr491Asn
NM_001195803.2:c.1595C>A NP_001182732.1:p.Thr532Asn