Canonical Allele Identifier: CA2582475439
Gene: LDLR HGNC NCBI

Linked Data

gnomAD v4: 19-11123121-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11123121G>T , CM000681.2:g.11123121G>T GRCh38
NC_000019.9:g.11233797G>T , CM000681.1:g.11233797G>T GRCh37
NC_000019.8:g.11094797G>T NCBI36
NG_009060.1:g.38741G>T , LRG_274:g.38741G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2399-53G>T ENSP00000252444.6:n.2399-53G>T
ENST00000559340.2:c.*210-53G>T ENSP00000453696.2:n.*210-53G>T
ENST00000560467.2:c.2021-53G>T ENSP00000453513.2:n.2021-53G>T
ENST00000558518.6:c.2141-53G>T MANE Select ENSP00000454071.1:n.2141-53G>T
ENST00000252444.9:c.2395-53G>T
ENST00000455727.6:c.1637-53G>T ENSP00000397829.2:n.1637-53G>T
ENST00000535915.5:c.2018-53G>T ENSP00000440520.1:n.2018-53G>T
ENST00000545707.5:c.1607-53G>T ENSP00000437639.1:n.1607-53G>T
ENST00000557933.5:c.2141-53G>T ENSP00000453557.1:n.2141-53G>T
ENST00000558013.5:c.2141-53G>T ENSP00000453346.1:n.2141-53G>T
ENST00000558518.5:c.2141-53G>T ENSP00000454071.1:n.2141-53G>T
NM_000527.4:c.2141-53G>T , LRG_274t1:c.2141-53G>T NP_000518.1:n.2141-53G>T
NM_001195798.1:c.2141-53G>T NP_001182727.1:n.2141-53G>T
NM_001195799.1:c.2018-53G>T NP_001182728.1:n.2018-53G>T
NM_001195800.1:c.1637-53G>T NP_001182729.1:n.1637-53G>T
NM_001195803.1:c.1607-53G>T NP_001182732.1:n.1607-53G>T
XM_011528010.1:c.2141-53G>T XP_011526312.1:n.2141-53G>T
XM_011528011.1:c.1760-53G>T XP_011526313.1:n.1760-53G>T
XR_244074.2:n.2151-53G>T
XM_011528010.2:c.2141-53G>T XP_011526312.1:n.2141-53G>T
XR_001753685.2:n.2475-53G>T
XR_001753686.2:n.2118-53G>T
NM_000527.5:c.2141-53G>T MANE Select NP_000518.1:n.2141-53G>T
NM_001195798.2:c.2141-53G>T NP_001182727.1:n.2141-53G>T
NM_001195799.2:c.2018-53G>T NP_001182728.1:n.2018-53G>T
NM_001195800.2:c.1637-53G>T NP_001182729.1:n.1637-53G>T
NM_001195803.2:c.1607-53G>T NP_001182732.1:n.1607-53G>T
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