Canonical Allele Identifier: CA2322767806
Gene: LDLR HGNC NCBI

Linked Data

dbSNP Id: rs2077288258
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105908T>C , CM000681.2:g.11105908T>C GRCh38
NC_000019.9:g.11216584T>C , CM000681.1:g.11216584T>C GRCh37
NC_000019.8:g.11077584T>C NCBI36
NG_009060.1:g.21528T>C , LRG_274:g.21528T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.952+308T>C ENSP00000252444.6:n.952+308T>C
ENST00000559340.2:c.694+308T>C ENSP00000453696.2:n.694+308T>C
ENST00000560467.2:c.694+308T>C ENSP00000453513.2:n.694+308T>C
ENST00000558518.6:c.694+308T>C MANE Select ENSP00000454071.1:n.694+308T>C
ENST00000252444.9:c.948+308T>C
ENST00000455727.6:c.314-1484T>C ENSP00000397829.2:n.314-1484T>C
ENST00000535915.5:c.571+308T>C ENSP00000440520.1:n.571+308T>C
ENST00000545707.5:c.314-657T>C ENSP00000437639.1:n.314-657T>C
ENST00000557933.5:c.694+308T>C ENSP00000453557.1:n.694+308T>C
ENST00000558013.5:c.694+308T>C ENSP00000453346.1:n.694+308T>C
ENST00000558518.5:c.694+308T>C ENSP00000454071.1:n.694+308T>C
ENST00000560467.1:c.294+308T>C
NM_000527.4:c.694+308T>C , LRG_274t1:c.694+308T>C NP_000518.1:n.694+308T>C
NM_001195798.1:c.694+308T>C NP_001182727.1:n.694+308T>C
NM_001195799.1:c.571+308T>C NP_001182728.1:n.571+308T>C
NM_001195800.1:c.314-1484T>C NP_001182729.1:n.314-1484T>C
NM_001195803.1:c.314-657T>C NP_001182732.1:n.314-657T>C
XM_011528010.1:c.694+308T>C XP_011526312.1:n.694+308T>C
XM_011528011.1:c.314-657T>C XP_011526313.1:n.314-657T>C
XR_244074.2:n.844+308T>C
XM_011528010.2:c.694+308T>C XP_011526312.1:n.694+308T>C
XR_001753685.2:n.811+308T>C
XR_001753686.2:n.811+308T>C
NM_000527.5:c.694+308T>C MANE Select NP_000518.1:n.694+308T>C
NM_001195798.2:c.694+308T>C NP_001182727.1:n.694+308T>C
NM_001195799.2:c.571+308T>C NP_001182728.1:n.571+308T>C
NM_001195800.2:c.314-1484T>C NP_001182729.1:n.314-1484T>C
NM_001195803.2:c.314-657T>C NP_001182732.1:n.314-657T>C
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