Canonical Allele Identifier: CA404093923
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120482C>A , CM000681.2:g.11120482C>A GRCh38
NC_000019.9:g.11231158C>A , CM000681.1:g.11231158C>A GRCh37
NC_000019.8:g.11092158C>A NCBI36
NG_009060.1:g.36102C>A , LRG_274:g.36102C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2358C>A ENSP00000252444.6:p.Asp786Glu
ENST00000559340.2:c.*169C>A ENSP00000453696.2:n.*169C>A
ENST00000560467.2:c.1980C>A ENSP00000453513.2:p.Asp660Glu
ENST00000558518.6:c.2100C>A MANE Select ENSP00000454071.1:p.Asp700Glu
ENST00000252444.9:c.2354C>A
ENST00000455727.6:c.1596C>A ENSP00000397829.2:p.Asp532Glu
ENST00000535915.5:c.1977C>A ENSP00000440520.1:p.Asp659Glu
ENST00000545707.5:c.1606+249C>A ENSP00000437639.1:n.1606+249C>A
ENST00000557933.5:c.2100C>A ENSP00000453557.1:p.Asp700Glu
ENST00000558013.5:c.2100C>A ENSP00000453346.1:p.Asp700Glu
ENST00000558518.5:c.2100C>A ENSP00000454071.1:p.Asp700Glu
NM_000527.4:c.2100C>A , LRG_274t1:c.2100C>A NP_000518.1:p.Asp700Glu
NM_001195798.1:c.2100C>A NP_001182727.1:p.Asp700Glu
NM_001195799.1:c.1977C>A NP_001182728.1:p.Asp659Glu
NM_001195800.1:c.1596C>A NP_001182729.1:p.Asp532Glu
NM_001195803.1:c.1606+249C>A NP_001182732.1:n.1606+249C>A
XM_011528010.1:c.2100C>A XP_011526312.1:p.Asp700Glu
XM_011528011.1:c.1719C>A XP_011526313.1:p.Asp573Glu
XR_244074.2:n.2110C>A
XM_011528010.2:c.2100C>A XP_011526312.1:p.Asp700Glu
XR_001753685.2:n.2217C>A
XR_001753686.2:n.2077C>A
NM_000527.5:c.2100C>A MANE Select NP_000518.1:p.Asp700Glu
NM_001195798.2:c.2100C>A NP_001182727.1:p.Asp700Glu
NM_001195799.2:c.1977C>A NP_001182728.1:p.Asp659Glu
NM_001195800.2:c.1596C>A NP_001182729.1:p.Asp532Glu
NM_001195803.2:c.1606+249C>A NP_001182732.1:n.1606+249C>A