Canonical Allele Identifier: CA404093506
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120397T>G , CM000681.2:g.11120397T>G GRCh38
NC_000019.9:g.11231073T>G , CM000681.1:g.11231073T>G GRCh37
NC_000019.8:g.11092073T>G NCBI36
NG_009060.1:g.36017T>G , LRG_274:g.36017T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2273T>G ENSP00000252444.6:p.Leu758Arg
ENST00000559340.2:c.*84T>G ENSP00000453696.2:n.*84T>G
ENST00000560467.2:c.1895T>G ENSP00000453513.2:p.Leu632Arg
ENST00000558518.6:c.2015T>G MANE Select ENSP00000454071.1:p.Leu672Arg
ENST00000252444.9:c.2269T>G
ENST00000455727.6:c.1511T>G ENSP00000397829.2:p.Leu504Arg
ENST00000535915.5:c.1892T>G ENSP00000440520.1:p.Leu631Arg
ENST00000545707.5:c.1606+164T>G ENSP00000437639.1:n.1606+164T>G
ENST00000557933.5:c.2015T>G ENSP00000453557.1:p.Leu672Arg
ENST00000558013.5:c.2015T>G ENSP00000453346.1:p.Leu672Arg
ENST00000558518.5:c.2015T>G ENSP00000454071.1:p.Leu672Arg
ENST00000559340.1:c.596T>G
NM_000527.4:c.2015T>G , LRG_274t1:c.2015T>G NP_000518.1:p.Leu672Arg
NM_001195798.1:c.2015T>G NP_001182727.1:p.Leu672Arg
NM_001195799.1:c.1892T>G NP_001182728.1:p.Leu631Arg
NM_001195800.1:c.1511T>G NP_001182729.1:p.Leu504Arg
NM_001195803.1:c.1606+164T>G NP_001182732.1:n.1606+164T>G
XM_011528010.1:c.2015T>G XP_011526312.1:p.Leu672Arg
XM_011528011.1:c.1634T>G XP_011526313.1:p.Leu545Arg
XR_244074.2:n.2025T>G
XM_011528010.2:c.2015T>G XP_011526312.1:p.Leu672Arg
XR_001753685.2:n.2132T>G
XR_001753686.2:n.1992T>G
NM_000527.5:c.2015T>G MANE Select NP_000518.1:p.Leu672Arg
NM_001195798.2:c.2015T>G NP_001182727.1:p.Leu672Arg
NM_001195799.2:c.1892T>G NP_001182728.1:p.Leu631Arg
NM_001195800.2:c.1511T>G NP_001182729.1:p.Leu504Arg
NM_001195803.2:c.1606+164T>G NP_001182732.1:n.1606+164T>G