Canonical Allele Identifier: CA404095454
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11123294G>T , CM000681.2:g.11123294G>T GRCh38
NC_000019.9:g.11233970G>T , CM000681.1:g.11233970G>T GRCh37
NC_000019.8:g.11094970G>T NCBI36
NG_009060.1:g.38914G>T , LRG_274:g.38914G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2519G>T ENSP00000252444.6:p.Gly840Val
ENST00000559340.2:c.*330G>T ENSP00000453696.2:n.*330G>T
ENST00000560467.2:c.2141G>T ENSP00000453513.2:p.Gly714Val
ENST00000558518.6:c.2261G>T MANE Select ENSP00000454071.1:p.Gly754Val
ENST00000252444.9:c.2515G>T
ENST00000455727.6:c.1757G>T ENSP00000397829.2:p.Gly586Val
ENST00000535915.5:c.2138G>T ENSP00000440520.1:p.Gly713Val
ENST00000545707.5:c.1727G>T ENSP00000437639.1:p.Gly576Val
ENST00000557933.5:c.2261G>T ENSP00000453557.1:p.Gly754Val
ENST00000558013.5:c.2261G>T ENSP00000453346.1:p.Gly754Val
ENST00000558518.5:c.2261G>T ENSP00000454071.1:p.Gly754Val
NM_000527.4:c.2261G>T , LRG_274t1:c.2261G>T NP_000518.1:p.Gly754Val
NM_001195798.1:c.2261G>T NP_001182727.1:p.Gly754Val
NM_001195799.1:c.2138G>T NP_001182728.1:p.Gly713Val
NM_001195800.1:c.1757G>T NP_001182729.1:p.Gly586Val
NM_001195803.1:c.1727G>T NP_001182732.1:p.Gly576Val
XM_011528010.1:c.2261G>T XP_011526312.1:p.Gly754Val
XM_011528011.1:c.1880G>T XP_011526313.1:p.Gly627Val
XR_244074.2:n.2271G>T
XM_011528010.2:c.2261G>T XP_011526312.1:p.Gly754Val
XR_001753685.2:n.2595G>T
XR_001753686.2:n.2238G>T
NM_000527.5:c.2261G>T MANE Select NP_000518.1:p.Gly754Val
NM_001195798.2:c.2261G>T NP_001182727.1:p.Gly754Val
NM_001195799.2:c.2138G>T NP_001182728.1:p.Gly713Val
NM_001195800.2:c.1757G>T NP_001182729.1:p.Gly586Val
NM_001195803.2:c.1727G>T NP_001182732.1:p.Gly576Val