Canonical Allele Identifier: CA404098977
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3073689
ClinVar RCV Id: RCV004016695
gnomAD v4: 19-11129579-A-G
MyVariant Identifiers: chr19:g.11240255A>G (hg19) chr19:g.11129579A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129579A>G , CM000681.2:g.11129579A>G GRCh38
NC_000019.9:g.11240255A>G , CM000681.1:g.11240255A>G GRCh37
NC_000019.8:g.11101255A>G NCBI36
NG_009060.1:g.45199A>G , LRG_274:g.45199A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2714A>G ENSP00000252444.6:p.Asn905Ser
ENST00000559340.2:c.*525A>G ENSP00000453696.2:n.*525A>G
ENST00000560467.2:c.2336A>G ENSP00000453513.2:p.Asn779Ser
ENST00000558518.6:c.2456A>G MANE Select ENSP00000454071.1:p.Asn819Ser
ENST00000252444.9:c.2710A>G
ENST00000455727.6:c.1952A>G ENSP00000397829.2:p.Asn651Ser
ENST00000535915.5:c.2333A>G ENSP00000440520.1:p.Asn778Ser
ENST00000545707.5:c.1922A>G ENSP00000437639.1:p.Asn641Ser
ENST00000557933.5:c.2518A>G ENSP00000453557.1:p.Thr840Ala
ENST00000558013.5:c.2456A>G ENSP00000453346.1:p.Asn819Ser
ENST00000558518.5:c.2456A>G ENSP00000454071.1:p.Asn819Ser
ENST00000560628.1:n.108+1925A>G
NM_000527.4:c.2456A>G , LRG_274t1:c.2456A>G NP_000518.1:p.Asn819Ser
NM_001195798.1:c.2456A>G NP_001182727.1:p.Asn819Ser
NM_001195799.1:c.2333A>G NP_001182728.1:p.Asn778Ser
NM_001195800.1:c.1952A>G NP_001182729.1:p.Asn651Ser
NM_001195803.1:c.1922A>G NP_001182732.1:p.Asn641Ser
XM_011528010.1:c.2378A>G XP_011526312.1:p.Asn793Ser
XM_011528011.1:c.2075A>G XP_011526313.1:p.Asn692Ser
XM_011528010.2:c.2378A>G XP_011526312.1:p.Asn793Ser
XR_001753685.2:n.2790A>G
XR_001753686.2:n.2433A>G
NM_000527.5:c.2456A>G MANE Select NP_000518.1:p.Asn819Ser
NM_001195798.2:c.2456A>G NP_001182727.1:p.Asn819Ser
NM_001195799.2:c.2333A>G NP_001182728.1:p.Asn778Ser
NM_001195800.2:c.1952A>G NP_001182729.1:p.Asn651Ser
NM_001195803.2:c.1922A>G NP_001182732.1:p.Asn641Ser
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