Canonical Allele Identifier: CA404098891
Gene: LDLR HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.11240248A>G (hg19) chr19:g.11129572A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129572A>G , CM000681.2:g.11129572A>G GRCh38
NC_000019.9:g.11240248A>G , CM000681.1:g.11240248A>G GRCh37
NC_000019.8:g.11101248A>G NCBI36
NG_009060.1:g.45192A>G , LRG_274:g.45192A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2707A>G ENSP00000252444.6:p.Asn903Asp
ENST00000559340.2:c.*518A>G ENSP00000453696.2:n.*518A>G
ENST00000560467.2:c.2329A>G ENSP00000453513.2:p.Asn777Asp
ENST00000558518.6:c.2449A>G MANE Select ENSP00000454071.1:p.Asn817Asp
ENST00000252444.9:c.2703A>G
ENST00000455727.6:c.1945A>G ENSP00000397829.2:p.Asn649Asp
ENST00000535915.5:c.2326A>G ENSP00000440520.1:p.Asn776Asp
ENST00000545707.5:c.1915A>G ENSP00000437639.1:p.Asn639Asp
ENST00000557933.5:c.2511A>G ENSP00000453557.1:p.Arg837=
ENST00000558013.5:c.2449A>G ENSP00000453346.1:p.Asn817Asp
ENST00000558518.5:c.2449A>G ENSP00000454071.1:p.Asn817Asp
ENST00000560628.1:n.108+1918A>G
NM_000527.4:c.2449A>G , LRG_274t1:c.2449A>G NP_000518.1:p.Asn817Asp
NM_001195798.1:c.2449A>G NP_001182727.1:p.Asn817Asp
NM_001195799.1:c.2326A>G NP_001182728.1:p.Asn776Asp
NM_001195800.1:c.1945A>G NP_001182729.1:p.Asn649Asp
NM_001195803.1:c.1915A>G NP_001182732.1:p.Asn639Asp
XM_011528010.1:c.2371A>G XP_011526312.1:p.Asn791Asp
XM_011528011.1:c.2068A>G XP_011526313.1:p.Asn690Asp
XR_244074.2:n.2459A>G
XM_011528010.2:c.2371A>G XP_011526312.1:p.Asn791Asp
XR_001753685.2:n.2783A>G
XR_001753686.2:n.2426A>G
NM_000527.5:c.2449A>G MANE Select NP_000518.1:p.Asn817Asp
NM_001195798.2:c.2449A>G NP_001182727.1:p.Asn817Asp
NM_001195799.2:c.2326A>G NP_001182728.1:p.Asn776Asp
NM_001195800.2:c.1945A>G NP_001182729.1:p.Asn649Asp
NM_001195803.2:c.1915A>G NP_001182732.1:p.Asn639Asp
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