Canonical Allele Identifier: CA404096650
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11128019G>T , CM000681.2:g.11128019G>T GRCh38
NC_000019.9:g.11238695G>T , CM000681.1:g.11238695G>T GRCh37
NC_000019.8:g.11099695G>T NCBI36
NG_009060.1:g.43639G>T , LRG_274:g.43639G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2581G>T ENSP00000252444.6:p.Val861Phe
ENST00000559340.2:c.*392G>T ENSP00000453696.2:n.*392G>T
ENST00000560467.2:c.2203G>T ENSP00000453513.2:p.Val735Phe
ENST00000558518.6:c.2323G>T MANE Select ENSP00000454071.1:p.Val775Phe
ENST00000252444.9:c.2577G>T
ENST00000455727.6:c.1819G>T ENSP00000397829.2:p.Val607Phe
ENST00000535915.5:c.2200G>T ENSP00000440520.1:p.Val734Phe
ENST00000545707.5:c.1789G>T ENSP00000437639.1:p.Val597Phe
ENST00000557933.5:c.2323G>T ENSP00000453557.1:p.Val775Phe
ENST00000558013.5:c.2323G>T ENSP00000453346.1:p.Val775Phe
ENST00000558518.5:c.2323G>T ENSP00000454071.1:p.Val775Phe
ENST00000560628.1:n.108+365G>T
NM_000527.4:c.2323G>T , LRG_274t1:c.2323G>T NP_000518.1:p.Val775Phe
NM_001195798.1:c.2323G>T NP_001182727.1:p.Val775Phe
NM_001195799.1:c.2200G>T NP_001182728.1:p.Val734Phe
NM_001195800.1:c.1819G>T NP_001182729.1:p.Val607Phe
NM_001195803.1:c.1789G>T NP_001182732.1:p.Val597Phe
XM_011528010.1:c.2312-1494G>T XP_011526312.1:n.2312-1494G>T
XM_011528011.1:c.1942G>T XP_011526313.1:p.Val648Phe
XR_244074.2:n.2333G>T
XM_011528010.2:c.2312-1494G>T XP_011526312.1:n.2312-1494G>T
XR_001753685.2:n.2657G>T
XR_001753686.2:n.2300G>T
NM_000527.5:c.2323G>T MANE Select NP_000518.1:p.Val775Phe
NM_001195798.2:c.2323G>T NP_001182727.1:p.Val775Phe
NM_001195799.2:c.2200G>T NP_001182728.1:p.Val734Phe
NM_001195800.2:c.1819G>T NP_001182729.1:p.Val607Phe
NM_001195803.2:c.1789G>T NP_001182732.1:p.Val597Phe