Canonical Allele Identifier: CA404099564
Gene: LDLR HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.11240307C>G (hg19) chr19:g.11129631C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129631C>G , CM000681.2:g.11129631C>G GRCh38
NC_000019.9:g.11240307C>G , CM000681.1:g.11240307C>G GRCh37
NC_000019.8:g.11101307C>G NCBI36
NG_009060.1:g.45251C>G , LRG_274:g.45251C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2766C>G ENSP00000252444.6:p.Val922=
ENST00000559340.2:c.*577C>G ENSP00000453696.2:n.*577C>G
ENST00000560467.2:c.2388C>G ENSP00000453513.2:p.Val796=
ENST00000558518.6:c.2508C>G MANE Select ENSP00000454071.1:p.Val836=
ENST00000252444.9:c.2762C>G
ENST00000455727.6:c.2004C>G ENSP00000397829.2:p.Val668=
ENST00000535915.5:c.2385C>G ENSP00000440520.1:p.Val795=
ENST00000545707.5:c.1974C>G ENSP00000437639.1:p.Val658=
ENST00000557933.5:c.2570C>G ENSP00000453557.1:p.Ser857Cys
ENST00000558013.5:c.2508C>G ENSP00000453346.1:p.Val836=
ENST00000558518.5:c.2508C>G ENSP00000454071.1:p.Val836=
ENST00000560628.1:n.108+1977C>G
NM_000527.4:c.2508C>G , LRG_274t1:c.2508C>G NP_000518.1:p.Val836=
NM_001195798.1:c.2508C>G NP_001182727.1:p.Val836=
NM_001195799.1:c.2385C>G NP_001182728.1:p.Val795=
NM_001195800.1:c.2004C>G NP_001182729.1:p.Val668=
NM_001195803.1:c.1974C>G NP_001182732.1:p.Val658=
XM_011528010.1:c.2430C>G XP_011526312.1:p.Val810=
XM_011528011.1:c.2127C>G XP_011526313.1:p.Val709=
XM_011528010.2:c.2430C>G XP_011526312.1:p.Val810=
XR_001753685.2:n.2842C>G
XR_001753686.2:n.2485C>G
NM_000527.5:c.2508C>G MANE Select NP_000518.1:p.Val836=
NM_001195798.2:c.2508C>G NP_001182727.1:p.Val836=
NM_001195799.2:c.2385C>G NP_001182728.1:p.Val795=
NM_001195800.2:c.2004C>G NP_001182729.1:p.Val668=
NM_001195803.2:c.1974C>G NP_001182732.1:p.Val658=
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