Canonical Allele Identifier: CA404099277
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129605T>A , CM000681.2:g.11129605T>A GRCh38
NC_000019.9:g.11240281T>A , CM000681.1:g.11240281T>A GRCh37
NC_000019.8:g.11101281T>A NCBI36
NG_009060.1:g.45225T>A , LRG_274:g.45225T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2740T>A ENSP00000252444.6:p.Tyr914Asn
ENST00000559340.2:c.*551T>A ENSP00000453696.2:n.*551T>A
ENST00000560467.2:c.2362T>A ENSP00000453513.2:p.Tyr788Asn
ENST00000558518.6:c.2482T>A MANE Select ENSP00000454071.1:p.Tyr828Asn
ENST00000252444.9:c.2736T>A
ENST00000455727.6:c.1978T>A ENSP00000397829.2:p.Tyr660Asn
ENST00000535915.5:c.2359T>A ENSP00000440520.1:p.Tyr787Asn
ENST00000545707.5:c.1948T>A ENSP00000437639.1:p.Tyr650Asn
ENST00000557933.5:c.2544T>A ENSP00000453557.1:p.Ser848=
ENST00000558013.5:c.2482T>A ENSP00000453346.1:p.Tyr828Asn
ENST00000558518.5:c.2482T>A ENSP00000454071.1:p.Tyr828Asn
ENST00000560628.1:n.108+1951T>A
NM_000527.4:c.2482T>A , LRG_274t1:c.2482T>A NP_000518.1:p.Tyr828Asn
NM_001195798.1:c.2482T>A NP_001182727.1:p.Tyr828Asn
NM_001195799.1:c.2359T>A NP_001182728.1:p.Tyr787Asn
NM_001195800.1:c.1978T>A NP_001182729.1:p.Tyr660Asn
NM_001195803.1:c.1948T>A NP_001182732.1:p.Tyr650Asn
XM_011528010.1:c.2404T>A XP_011526312.1:p.Tyr802Asn
XM_011528011.1:c.2101T>A XP_011526313.1:p.Tyr701Asn
XM_011528010.2:c.2404T>A XP_011526312.1:p.Tyr802Asn
XR_001753685.2:n.2816T>A
XR_001753686.2:n.2459T>A
NM_000527.5:c.2482T>A MANE Select NP_000518.1:p.Tyr828Asn
NM_001195798.2:c.2482T>A NP_001182727.1:p.Tyr828Asn
NM_001195799.2:c.2359T>A NP_001182728.1:p.Tyr787Asn
NM_001195800.2:c.1978T>A NP_001182729.1:p.Tyr660Asn
NM_001195803.2:c.1948T>A NP_001182732.1:p.Tyr650Asn