Canonical Allele Identifier: CA2322781182
Community Standard Title: NM_000527.5(LDLR):c.2548-76T>G
Gene: LDLR HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11131205T>G , CM000681.2:g.11131205T>G GRCh38
NC_000019.9:g.11241881T>G , CM000681.1:g.11241881T>G GRCh37
NC_000019.8:g.11102881T>G NCBI36
NG_009060.1:g.46825T>G , LRG_274:g.46825T>G

Transcript Alleles

HGVS Amino-acid Change
NM_000527.5:c.2548-76T>G MANE Select NP_000518.1:n.2548-76T>G
ENST00000558518.6:c.2548-76T>G MANE Select ENSP00000454071.1:n.2548-76T>G
NM_000527.4:c.2548-76T>G , LRG_274t1:c.2548-76T>G NP_000518.1:n.2548-76T>G
NM_001195798.1:c.2548-82T>G NP_001182727.1:n.2548-82T>G
NM_001195798.2:c.2548-82T>G NP_001182727.1:n.2548-82T>G
NM_001195799.1:c.2425-76T>G NP_001182728.1:n.2425-76T>G
NM_001195799.2:c.2425-76T>G NP_001182728.1:n.2425-76T>G
NM_001195800.1:c.2044-76T>G NP_001182729.1:n.2044-76T>G
NM_001195800.2:c.2044-76T>G NP_001182729.1:n.2044-76T>G
NM_001195803.1:c.2014-76T>G NP_001182732.1:n.2014-76T>G
NM_001195803.2:c.2014-76T>G NP_001182732.1:n.2014-76T>G
ENST00000252444.10:c.2806-76T>G ENSP00000252444.6:n.2806-76T>G
ENST00000252444.9:c.2802-76T>G
ENST00000455727.6:c.2044-76T>G ENSP00000397829.2:n.2044-76T>G
ENST00000535915.5:c.2425-76T>G ENSP00000440520.1:n.2425-76T>G
ENST00000545707.5:c.2014-76T>G ENSP00000437639.1:n.2014-76T>G
ENST00000557933.5:c.2610-76T>G ENSP00000453557.1:n.2610-76T>G
ENST00000558013.5:c.2548-82T>G ENSP00000453346.1:n.2548-82T>G
ENST00000558518.5:c.2548-76T>G ENSP00000454071.1:n.2548-76T>G
ENST00000559340.2:c.*617-76T>G ENSP00000453696.2:n.*617-76T>G
ENST00000560467.2:c.2428-76T>G ENSP00000453513.2:n.2428-76T>G
ENST00000560628.1:n.109-1890T>G
XM_011528010.1:c.2470-76T>G XP_011526312.1:n.2470-76T>G
XM_011528010.2:c.2470-76T>G XP_011526312.1:n.2470-76T>G
XM_011528011.1:c.2167-76T>G XP_011526313.1:n.2167-76T>G
XR_001753685.2:n.2882-76T>G
XR_001753686.2:n.2525-76T>G
Search 100 bp 5'
Search 100 bp 3'