Canonical Allele Identifier: CA305308510
Gene: LDLR HGNC NCBI

Linked Data

dbSNP Id: rs1023876465
gnomAD v2: 19-11238799-C-T
gnomAD v3: 19-11128123-C-T
gnomAD v4: 19-11128123-C-T
MyVariant Identifiers: chr19:g.11238799C>T (hg19) chr19:g.11128123C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11128123C>T , CM000681.2:g.11128123C>T GRCh38
NC_000019.9:g.11238799C>T , CM000681.1:g.11238799C>T GRCh37
NC_000019.8:g.11099799C>T NCBI36
NG_009060.1:g.43743C>T , LRG_274:g.43743C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2647+38C>T ENSP00000252444.6:n.2647+38C>T
ENST00000559340.2:c.*458+38C>T ENSP00000453696.2:n.*458+38C>T
ENST00000560467.2:c.2269+38C>T ENSP00000453513.2:n.2269+38C>T
ENST00000558518.6:c.2389+38C>T MANE Select ENSP00000454071.1:n.2389+38C>T
ENST00000252444.9:c.2643+38C>T
ENST00000455727.6:c.1885+38C>T ENSP00000397829.2:n.1885+38C>T
ENST00000535915.5:c.2266+38C>T ENSP00000440520.1:n.2266+38C>T
ENST00000545707.5:c.1855+38C>T ENSP00000437639.1:n.1855+38C>T
ENST00000557933.5:c.2389+38C>T ENSP00000453557.1:n.2389+38C>T
ENST00000558013.5:c.2389+38C>T ENSP00000453346.1:n.2389+38C>T
ENST00000558518.5:c.2389+38C>T ENSP00000454071.1:n.2389+38C>T
ENST00000560628.1:n.108+469C>T
NM_000527.4:c.2389+38C>T , LRG_274t1:c.2389+38C>T NP_000518.1:n.2389+38C>T
NM_001195798.1:c.2389+38C>T NP_001182727.1:n.2389+38C>T
NM_001195799.1:c.2266+38C>T NP_001182728.1:n.2266+38C>T
NM_001195800.1:c.1885+38C>T NP_001182729.1:n.1885+38C>T
NM_001195803.1:c.1855+38C>T NP_001182732.1:n.1855+38C>T
XM_011528010.1:c.2312-1390C>T XP_011526312.1:n.2312-1390C>T
XM_011528011.1:c.2008+38C>T XP_011526313.1:n.2008+38C>T
XR_244074.2:n.2399+38C>T
XM_011528010.2:c.2312-1390C>T XP_011526312.1:n.2312-1390C>T
XR_001753685.2:n.2723+38C>T
XR_001753686.2:n.2366+38C>T
NM_000527.5:c.2389+38C>T MANE Select NP_000518.1:n.2389+38C>T
NM_001195798.2:c.2389+38C>T NP_001182727.1:n.2389+38C>T
NM_001195799.2:c.2266+38C>T NP_001182728.1:n.2266+38C>T
NM_001195800.2:c.1885+38C>T NP_001182729.1:n.1885+38C>T
NM_001195803.2:c.1855+38C>T NP_001182732.1:n.1855+38C>T
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