Canonical Allele Identifier: CA2322781178
Community Standard Title: NM_000527.5(LDLR):c.2548-80G=
Gene: LDLR HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11131201G= , CM000681.2:g.11131201G= GRCh38
NC_000019.9:g.11241877G= , CM000681.1:g.11241877G= GRCh37
NC_000019.8:g.11102877G= NCBI36
NG_009060.1:g.46821G= , LRG_274:g.46821G=

Transcript Alleles

HGVS Amino-acid Change
NM_000527.5:c.2548-80G= MANE Select NP_000518.1:n.2548-80G=
ENST00000558518.6:c.2548-80G= MANE Select ENSP00000454071.1:n.2548-80G=
NM_000527.4:c.2548-80G= , LRG_274t1:c.2548-80G= NP_000518.1:n.2548-80G=
NM_001195798.1:c.2548-86G= NP_001182727.1:n.2548-86G=
NM_001195798.2:c.2548-86G= NP_001182727.1:n.2548-86G=
NM_001195799.1:c.2425-80G= NP_001182728.1:n.2425-80G=
NM_001195799.2:c.2425-80G= NP_001182728.1:n.2425-80G=
NM_001195800.1:c.2044-80G= NP_001182729.1:n.2044-80G=
NM_001195800.2:c.2044-80G= NP_001182729.1:n.2044-80G=
NM_001195803.1:c.2014-80G= NP_001182732.1:n.2014-80G=
NM_001195803.2:c.2014-80G= NP_001182732.1:n.2014-80G=
ENST00000252444.10:c.2806-80G= ENSP00000252444.6:n.2806-80G=
ENST00000252444.9:c.2802-80G=
ENST00000455727.6:c.2044-80G= ENSP00000397829.2:n.2044-80G=
ENST00000535915.5:c.2425-80G= ENSP00000440520.1:n.2425-80G=
ENST00000545707.5:c.2014-80G= ENSP00000437639.1:n.2014-80G=
ENST00000557933.5:c.2610-80G= ENSP00000453557.1:n.2610-80G=
ENST00000558013.5:c.2548-86G= ENSP00000453346.1:n.2548-86G=
ENST00000558518.5:c.2548-80G= ENSP00000454071.1:n.2548-80G=
ENST00000559340.2:c.*617-80G= ENSP00000453696.2:n.*617-80G=
ENST00000560467.2:c.2428-80G= ENSP00000453513.2:n.2428-80G=
ENST00000560628.1:n.109-1894G=
XM_011528010.1:c.2470-80G= XP_011526312.1:n.2470-80G=
XM_011528010.2:c.2470-80G= XP_011526312.1:n.2470-80G=
XM_011528011.1:c.2167-80G= XP_011526313.1:n.2167-80G=
XR_001753685.2:n.2882-80G=
XR_001753686.2:n.2525-80G=
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