Canonical Allele Identifier: CA2322775775
Gene: LDLR HGNC NCBI

Linked Data

dbSNP Id: rs2077539174
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120767A>T , CM000681.2:g.11120767A>T GRCh38
NC_000019.9:g.11231443A>T , CM000681.1:g.11231443A>T GRCh37
NC_000019.8:g.11092443A>T NCBI36
NG_009060.1:g.36387A>T , LRG_274:g.36387A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2398+245A>T ENSP00000252444.6:n.2398+245A>T
ENST00000559340.2:c.*209+245A>T ENSP00000453696.2:n.*209+245A>T
ENST00000560467.2:c.2020+245A>T ENSP00000453513.2:n.2020+245A>T
ENST00000558518.6:c.2140+245A>T MANE Select ENSP00000454071.1:n.2140+245A>T
ENST00000252444.9:c.2394+245A>T
ENST00000455727.6:c.1636+245A>T ENSP00000397829.2:n.1636+245A>T
ENST00000535915.5:c.2017+245A>T ENSP00000440520.1:n.2017+245A>T
ENST00000545707.5:c.1606+534A>T ENSP00000437639.1:n.1606+534A>T
ENST00000557933.5:c.2140+245A>T ENSP00000453557.1:n.2140+245A>T
ENST00000558013.5:c.2140+245A>T ENSP00000453346.1:n.2140+245A>T
ENST00000558518.5:c.2140+245A>T ENSP00000454071.1:n.2140+245A>T
NM_000527.4:c.2140+245A>T , LRG_274t1:c.2140+245A>T NP_000518.1:n.2140+245A>T
NM_001195798.1:c.2140+245A>T NP_001182727.1:n.2140+245A>T
NM_001195799.1:c.2017+245A>T NP_001182728.1:n.2017+245A>T
NM_001195800.1:c.1636+245A>T NP_001182729.1:n.1636+245A>T
NM_001195803.1:c.1606+534A>T NP_001182732.1:n.1606+534A>T
XM_011528010.1:c.2140+245A>T XP_011526312.1:n.2140+245A>T
XM_011528011.1:c.1759+245A>T XP_011526313.1:n.1759+245A>T
XR_244074.2:n.2150+245A>T
XM_011528010.2:c.2140+245A>T XP_011526312.1:n.2140+245A>T
XR_001753685.2:n.2474+28A>T
XR_001753686.2:n.2117+245A>T
NM_000527.5:c.2140+245A>T MANE Select NP_000518.1:n.2140+245A>T
NM_001195798.2:c.2140+245A>T NP_001182727.1:n.2140+245A>T
NM_001195799.2:c.2017+245A>T NP_001182728.1:n.2017+245A>T
NM_001195800.2:c.1636+245A>T NP_001182729.1:n.1636+245A>T
NM_001195803.2:c.1606+534A>T NP_001182732.1:n.1606+534A>T
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