Canonical Allele Identifier: CA404096620
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11128014G>T , CM000681.2:g.11128014G>T GRCh38
NC_000019.9:g.11238690G>T , CM000681.1:g.11238690G>T GRCh37
NC_000019.8:g.11099690G>T NCBI36
NG_009060.1:g.43634G>T , LRG_274:g.43634G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2576G>T ENSP00000252444.6:p.Gly859Val
ENST00000559340.2:c.*387G>T ENSP00000453696.2:n.*387G>T
ENST00000560467.2:c.2198G>T ENSP00000453513.2:p.Gly733Val
ENST00000558518.6:c.2318G>T MANE Select ENSP00000454071.1:p.Gly773Val
ENST00000252444.9:c.2572G>T
ENST00000455727.6:c.1814G>T ENSP00000397829.2:p.Gly605Val
ENST00000535915.5:c.2195G>T ENSP00000440520.1:p.Gly732Val
ENST00000545707.5:c.1784G>T ENSP00000437639.1:p.Gly595Val
ENST00000557933.5:c.2318G>T ENSP00000453557.1:p.Gly773Val
ENST00000558013.5:c.2318G>T ENSP00000453346.1:p.Gly773Val
ENST00000558518.5:c.2318G>T ENSP00000454071.1:p.Gly773Val
ENST00000560628.1:n.108+360G>T
NM_000527.4:c.2318G>T , LRG_274t1:c.2318G>T NP_000518.1:p.Gly773Val
NM_001195798.1:c.2318G>T NP_001182727.1:p.Gly773Val
NM_001195799.1:c.2195G>T NP_001182728.1:p.Gly732Val
NM_001195800.1:c.1814G>T NP_001182729.1:p.Gly605Val
NM_001195803.1:c.1784G>T NP_001182732.1:p.Gly595Val
XM_011528010.1:c.2312-1499G>T XP_011526312.1:n.2312-1499G>T
XM_011528011.1:c.1937G>T XP_011526313.1:p.Gly646Val
XR_244074.2:n.2328G>T
XM_011528010.2:c.2312-1499G>T XP_011526312.1:n.2312-1499G>T
XR_001753685.2:n.2652G>T
XR_001753686.2:n.2295G>T
NM_000527.5:c.2318G>T MANE Select NP_000518.1:p.Gly773Val
NM_001195798.2:c.2318G>T NP_001182727.1:p.Gly773Val
NM_001195799.2:c.2195G>T NP_001182728.1:p.Gly732Val
NM_001195800.2:c.1814G>T NP_001182729.1:p.Gly605Val
NM_001195803.2:c.1784G>T NP_001182732.1:p.Gly595Val