Canonical Allele Identifier: CA2576626256
Community Standard Title: NM_000527.5(LDLR):c.2548-81G>A
Gene: LDLR HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11131200G>A , CM000681.2:g.11131200G>A GRCh38
NC_000019.9:g.11241876G>A , CM000681.1:g.11241876G>A GRCh37
NC_000019.8:g.11102876G>A NCBI36
NG_009060.1:g.46820G>A , LRG_274:g.46820G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000527.5:c.2548-81G>A MANE Select NP_000518.1:n.2548-81G>A
ENST00000558518.6:c.2548-81G>A MANE Select ENSP00000454071.1:n.2548-81G>A
NM_000527.4:c.2548-81G>A , LRG_274t1:c.2548-81G>A NP_000518.1:n.2548-81G>A
NM_001195798.1:c.2548-87G>A NP_001182727.1:n.2548-87G>A
NM_001195798.2:c.2548-87G>A NP_001182727.1:n.2548-87G>A
NM_001195799.1:c.2425-81G>A NP_001182728.1:n.2425-81G>A
NM_001195799.2:c.2425-81G>A NP_001182728.1:n.2425-81G>A
NM_001195800.1:c.2044-81G>A NP_001182729.1:n.2044-81G>A
NM_001195800.2:c.2044-81G>A NP_001182729.1:n.2044-81G>A
NM_001195803.1:c.2014-81G>A NP_001182732.1:n.2014-81G>A
NM_001195803.2:c.2014-81G>A NP_001182732.1:n.2014-81G>A
ENST00000252444.10:c.2806-81G>A ENSP00000252444.6:n.2806-81G>A
ENST00000252444.9:c.2802-81G>A
ENST00000455727.6:c.2044-81G>A ENSP00000397829.2:n.2044-81G>A
ENST00000535915.5:c.2425-81G>A ENSP00000440520.1:n.2425-81G>A
ENST00000545707.5:c.2014-81G>A ENSP00000437639.1:n.2014-81G>A
ENST00000557933.5:c.2610-81G>A ENSP00000453557.1:n.2610-81G>A
ENST00000558013.5:c.2548-87G>A ENSP00000453346.1:n.2548-87G>A
ENST00000558518.5:c.2548-81G>A ENSP00000454071.1:n.2548-81G>A
ENST00000559340.2:c.*617-81G>A ENSP00000453696.2:n.*617-81G>A
ENST00000560467.2:c.2428-81G>A ENSP00000453513.2:n.2428-81G>A
ENST00000560628.1:n.109-1895G>A
XM_011528010.1:c.2470-81G>A XP_011526312.1:n.2470-81G>A
XM_011528010.2:c.2470-81G>A XP_011526312.1:n.2470-81G>A
XM_011528011.1:c.2167-81G>A XP_011526313.1:n.2167-81G>A
XR_001753685.2:n.2882-81G>A
XR_001753686.2:n.2525-81G>A
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