Canonical Allele Identifier: CA404099615
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129635A>T , CM000681.2:g.11129635A>T GRCh38
NC_000019.9:g.11240311A>T , CM000681.1:g.11240311A>T GRCh37
NC_000019.8:g.11101311A>T NCBI36
NG_009060.1:g.45255A>T , LRG_274:g.45255A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2770A>T ENSP00000252444.6:p.Ile924Phe
ENST00000559340.2:c.*581A>T ENSP00000453696.2:n.*581A>T
ENST00000560467.2:c.2392A>T ENSP00000453513.2:p.Ile798Phe
ENST00000558518.6:c.2512A>T MANE Select ENSP00000454071.1:p.Ile838Phe
ENST00000252444.9:c.2766A>T
ENST00000455727.6:c.2008A>T ENSP00000397829.2:p.Ile670Phe
ENST00000535915.5:c.2389A>T ENSP00000440520.1:p.Ile797Phe
ENST00000545707.5:c.1978A>T ENSP00000437639.1:p.Ile660Phe
ENST00000557933.5:c.2574A>T ENSP00000453557.1:p.Thr858=
ENST00000558013.5:c.2512A>T ENSP00000453346.1:p.Ile838Phe
ENST00000558518.5:c.2512A>T ENSP00000454071.1:p.Ile838Phe
ENST00000560628.1:n.108+1981A>T
NM_000527.4:c.2512A>T , LRG_274t1:c.2512A>T NP_000518.1:p.Ile838Phe
NM_001195798.1:c.2512A>T NP_001182727.1:p.Ile838Phe
NM_001195799.1:c.2389A>T NP_001182728.1:p.Ile797Phe
NM_001195800.1:c.2008A>T NP_001182729.1:p.Ile670Phe
NM_001195803.1:c.1978A>T NP_001182732.1:p.Ile660Phe
XM_011528010.1:c.2434A>T XP_011526312.1:p.Ile812Phe
XM_011528011.1:c.2131A>T XP_011526313.1:p.Ile711Phe
XM_011528010.2:c.2434A>T XP_011526312.1:p.Ile812Phe
XR_001753685.2:n.2846A>T
XR_001753686.2:n.2489A>T
NM_000527.5:c.2512A>T MANE Select NP_000518.1:p.Ile838Phe
NM_001195798.2:c.2512A>T NP_001182727.1:p.Ile838Phe
NM_001195799.2:c.2389A>T NP_001182728.1:p.Ile797Phe
NM_001195800.2:c.2008A>T NP_001182729.1:p.Ile670Phe
NM_001195803.2:c.1978A>T NP_001182732.1:p.Ile660Phe