Canonical Allele Identifier: CA404099389
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129613G>T , CM000681.2:g.11129613G>T GRCh38
NC_000019.9:g.11240289G>T , CM000681.1:g.11240289G>T GRCh37
NC_000019.8:g.11101289G>T NCBI36
NG_009060.1:g.45233G>T , LRG_274:g.45233G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2748G>T ENSP00000252444.6:p.Lys916Asn
ENST00000559340.2:c.*559G>T ENSP00000453696.2:n.*559G>T
ENST00000560467.2:c.2370G>T ENSP00000453513.2:p.Lys790Asn
ENST00000558518.6:c.2490G>T MANE Select ENSP00000454071.1:p.Lys830Asn
ENST00000252444.9:c.2744G>T
ENST00000455727.6:c.1986G>T ENSP00000397829.2:p.Lys662Asn
ENST00000535915.5:c.2367G>T ENSP00000440520.1:p.Lys789Asn
ENST00000545707.5:c.1956G>T ENSP00000437639.1:p.Lys652Asn
ENST00000557933.5:c.2552G>T ENSP00000453557.1:p.Arg851Ile
ENST00000558013.5:c.2490G>T ENSP00000453346.1:p.Lys830Asn
ENST00000558518.5:c.2490G>T ENSP00000454071.1:p.Lys830Asn
ENST00000560628.1:n.108+1959G>T
NM_000527.4:c.2490G>T , LRG_274t1:c.2490G>T NP_000518.1:p.Lys830Asn
NM_001195798.1:c.2490G>T NP_001182727.1:p.Lys830Asn
NM_001195799.1:c.2367G>T NP_001182728.1:p.Lys789Asn
NM_001195800.1:c.1986G>T NP_001182729.1:p.Lys662Asn
NM_001195803.1:c.1956G>T NP_001182732.1:p.Lys652Asn
XM_011528010.1:c.2412G>T XP_011526312.1:p.Lys804Asn
XM_011528011.1:c.2109G>T XP_011526313.1:p.Lys703Asn
XM_011528010.2:c.2412G>T XP_011526312.1:p.Lys804Asn
XR_001753685.2:n.2824G>T
XR_001753686.2:n.2467G>T
NM_000527.5:c.2490G>T MANE Select NP_000518.1:p.Lys830Asn
NM_001195798.2:c.2490G>T NP_001182727.1:p.Lys830Asn
NM_001195799.2:c.2367G>T NP_001182728.1:p.Lys789Asn
NM_001195800.2:c.1986G>T NP_001182729.1:p.Lys662Asn
NM_001195803.2:c.1956G>T NP_001182732.1:p.Lys652Asn