Canonical Allele Identifier: CA404081002
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11107474A>T , CM000681.2:g.11107474A>T GRCh38
NC_000019.9:g.11218150A>T , CM000681.1:g.11218150A>T GRCh37
NC_000019.8:g.11079150A>T NCBI36
NG_009060.1:g.23094A>T , LRG_274:g.23094A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1158A>T ENSP00000252444.6:p.Arg386Ser
ENST00000559340.2:c.900A>T ENSP00000453696.2:p.Arg300Ser
ENST00000560467.2:c.900A>T ENSP00000453513.2:p.Arg300Ser
ENST00000558518.6:c.900A>T MANE Select ENSP00000454071.1:p.Arg300Ser
ENST00000252444.9:c.1154A>T
ENST00000455727.6:c.396A>T ENSP00000397829.2:p.Arg132Ser
ENST00000535915.5:c.777A>T ENSP00000440520.1:p.Arg259Ser
ENST00000545707.5:c.519A>T ENSP00000437639.1:p.Arg173Ser
ENST00000557933.5:c.900A>T ENSP00000453557.1:p.Arg300Ser
ENST00000558013.5:c.900A>T ENSP00000453346.1:p.Arg300Ser
ENST00000558518.5:c.900A>T ENSP00000454071.1:p.Arg300Ser
ENST00000558528.1:n.415A>T
ENST00000560467.1:c.500A>T
NM_000527.4:c.900A>T , LRG_274t1:c.900A>T NP_000518.1:p.Arg300Ser
NM_001195798.1:c.900A>T NP_001182727.1:p.Arg300Ser
NM_001195799.1:c.777A>T NP_001182728.1:p.Arg259Ser
NM_001195800.1:c.396A>T NP_001182729.1:p.Arg132Ser
NM_001195803.1:c.519A>T NP_001182732.1:p.Arg173Ser
XM_011528010.1:c.900A>T XP_011526312.1:p.Arg300Ser
XM_011528011.1:c.519A>T XP_011526313.1:p.Arg173Ser
XR_244074.2:n.1050A>T
XM_011528010.2:c.900A>T XP_011526312.1:p.Arg300Ser
XR_001753685.2:n.1017A>T
XR_001753686.2:n.1017A>T
NM_000527.5:c.900A>T MANE Select NP_000518.1:p.Arg300Ser
NM_001195798.2:c.900A>T NP_001182727.1:p.Arg300Ser
NM_001195799.2:c.777A>T NP_001182728.1:p.Arg259Ser
NM_001195800.2:c.396A>T NP_001182729.1:p.Arg132Ser
NM_001195803.2:c.519A>T NP_001182732.1:p.Arg173Ser