Canonical Allele Identifier: CA404099521
Gene: LDLR HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.11240301T>G (hg19) chr19:g.11129625T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129625T>G , CM000681.2:g.11129625T>G GRCh38
NC_000019.9:g.11240301T>G , CM000681.1:g.11240301T>G GRCh37
NC_000019.8:g.11101301T>G NCBI36
NG_009060.1:g.45245T>G , LRG_274:g.45245T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2760T>G ENSP00000252444.6:p.Asp920Glu
ENST00000559340.2:c.*571T>G ENSP00000453696.2:n.*571T>G
ENST00000560467.2:c.2382T>G ENSP00000453513.2:p.Asp794Glu
ENST00000558518.6:c.2502T>G MANE Select ENSP00000454071.1:p.Asp834Glu
ENST00000252444.9:c.2756T>G
ENST00000455727.6:c.1998T>G ENSP00000397829.2:p.Asp666Glu
ENST00000535915.5:c.2379T>G ENSP00000440520.1:p.Asp793Glu
ENST00000545707.5:c.1968T>G ENSP00000437639.1:p.Asp656Glu
ENST00000557933.5:c.2564T>G ENSP00000453557.1:p.Met855Arg
ENST00000558013.5:c.2502T>G ENSP00000453346.1:p.Asp834Glu
ENST00000558518.5:c.2502T>G ENSP00000454071.1:p.Asp834Glu
ENST00000560628.1:n.108+1971T>G
NM_000527.4:c.2502T>G , LRG_274t1:c.2502T>G NP_000518.1:p.Asp834Glu
NM_001195798.1:c.2502T>G NP_001182727.1:p.Asp834Glu
NM_001195799.1:c.2379T>G NP_001182728.1:p.Asp793Glu
NM_001195800.1:c.1998T>G NP_001182729.1:p.Asp666Glu
NM_001195803.1:c.1968T>G NP_001182732.1:p.Asp656Glu
XM_011528010.1:c.2424T>G XP_011526312.1:p.Asp808Glu
XM_011528011.1:c.2121T>G XP_011526313.1:p.Asp707Glu
XM_011528010.2:c.2424T>G XP_011526312.1:p.Asp808Glu
XR_001753685.2:n.2836T>G
XR_001753686.2:n.2479T>G
NM_000527.5:c.2502T>G MANE Select NP_000518.1:p.Asp834Glu
NM_001195798.2:c.2502T>G NP_001182727.1:p.Asp834Glu
NM_001195799.2:c.2379T>G NP_001182728.1:p.Asp793Glu
NM_001195800.2:c.1998T>G NP_001182729.1:p.Asp666Glu
NM_001195803.2:c.1968T>G NP_001182732.1:p.Asp656Glu
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