Canonical Allele Identifier: CA404095437
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2519G>C ENSP00000252444.6:p.Gly840Ala
ENST00000559340.2:c.*330G>C ENSP00000453696.2:n.*330G>C
ENST00000560467.2:c.2141G>C ENSP00000453513.2:p.Gly714Ala
ENST00000558518.6:c.2261G>C MANE Select ENSP00000454071.1:p.Gly754Ala
ENST00000252444.9:c.2515G>C
ENST00000455727.6:c.1757G>C ENSP00000397829.2:p.Gly586Ala
ENST00000535915.5:c.2138G>C ENSP00000440520.1:p.Gly713Ala
ENST00000545707.5:c.1727G>C ENSP00000437639.1:p.Gly576Ala
ENST00000557933.5:c.2261G>C ENSP00000453557.1:p.Gly754Ala
ENST00000558013.5:c.2261G>C ENSP00000453346.1:p.Gly754Ala
ENST00000558518.5:c.2261G>C ENSP00000454071.1:p.Gly754Ala
NM_000527.4:c.2261G>C , LRG_274t1:c.2261G>C NP_000518.1:p.Gly754Ala
NM_001195798.1:c.2261G>C NP_001182727.1:p.Gly754Ala
NM_001195799.1:c.2138G>C NP_001182728.1:p.Gly713Ala
NM_001195800.1:c.1757G>C NP_001182729.1:p.Gly586Ala
NM_001195803.1:c.1727G>C NP_001182732.1:p.Gly576Ala
XM_011528010.1:c.2261G>C XP_011526312.1:p.Gly754Ala
XM_011528011.1:c.1880G>C XP_011526313.1:p.Gly627Ala
XR_244074.2:n.2271G>C
XM_011528010.2:c.2261G>C XP_011526312.1:p.Gly754Ala
XR_001753685.2:n.2595G>C
XR_001753686.2:n.2238G>C
NM_000527.5:c.2261G>C MANE Select NP_000518.1:p.Gly754Ala
NM_001195798.2:c.2261G>C NP_001182727.1:p.Gly754Ala
NM_001195799.2:c.2138G>C NP_001182728.1:p.Gly713Ala
NM_001195800.2:c.1757G>C NP_001182729.1:p.Gly586Ala
NM_001195803.2:c.1727G>C NP_001182732.1:p.Gly576Ala