Canonical Allele Identifier: CA404098721
Gene: LDLR HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.11240233A>G (hg19) chr19:g.11129557A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129557A>G , CM000681.2:g.11129557A>G GRCh38
NC_000019.9:g.11240233A>G , CM000681.1:g.11240233A>G GRCh37
NC_000019.8:g.11101233A>G NCBI36
NG_009060.1:g.45177A>G , LRG_274:g.45177A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2692A>G ENSP00000252444.6:p.Asn898Asp
ENST00000559340.2:c.*503A>G ENSP00000453696.2:n.*503A>G
ENST00000560467.2:c.2314A>G ENSP00000453513.2:p.Asn772Asp
ENST00000558518.6:c.2434A>G MANE Select ENSP00000454071.1:p.Asn812Asp
ENST00000252444.9:c.2688A>G
ENST00000455727.6:c.1930A>G ENSP00000397829.2:p.Asn644Asp
ENST00000535915.5:c.2311A>G ENSP00000440520.1:p.Asn771Asp
ENST00000545707.5:c.1900A>G ENSP00000437639.1:p.Asn634Asp
ENST00000557933.5:c.2496A>G ENSP00000453557.1:p.Arg832=
ENST00000558013.5:c.2434A>G ENSP00000453346.1:p.Asn812Asp
ENST00000558518.5:c.2434A>G ENSP00000454071.1:p.Asn812Asp
ENST00000560628.1:n.108+1903A>G
NM_000527.4:c.2434A>G , LRG_274t1:c.2434A>G NP_000518.1:p.Asn812Asp
NM_001195798.1:c.2434A>G NP_001182727.1:p.Asn812Asp
NM_001195799.1:c.2311A>G NP_001182728.1:p.Asn771Asp
NM_001195800.1:c.1930A>G NP_001182729.1:p.Asn644Asp
NM_001195803.1:c.1900A>G NP_001182732.1:p.Asn634Asp
XM_011528010.1:c.2356A>G XP_011526312.1:p.Asn786Asp
XM_011528011.1:c.2053A>G XP_011526313.1:p.Asn685Asp
XR_244074.2:n.2444A>G
XM_011528010.2:c.2356A>G XP_011526312.1:p.Asn786Asp
XR_001753685.2:n.2768A>G
XR_001753686.2:n.2411A>G
NM_000527.5:c.2434A>G MANE Select NP_000518.1:p.Asn812Asp
NM_001195798.2:c.2434A>G NP_001182727.1:p.Asn812Asp
NM_001195799.2:c.2311A>G NP_001182728.1:p.Asn771Asp
NM_001195800.2:c.1930A>G NP_001182729.1:p.Asn644Asp
NM_001195803.2:c.1900A>G NP_001182732.1:p.Asn634Asp
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