Canonical Allele Identifier: CA16602338
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 375824
ClinVar RCV Id: RCV000417315 RCV001764352 RCV002411283
dbSNP Id: rs1057519677
MyVariant Identifiers: chr19:g.11230775T>G (hg19) chr19:g.11120099T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120099T>G , CM000681.2:g.11120099T>G GRCh38
NC_000019.9:g.11230775T>G , CM000681.1:g.11230775T>G GRCh37
NC_000019.8:g.11091775T>G NCBI36
NG_009060.1:g.35719T>G , LRG_274:g.35719T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.2111T>G ENSP00000252444.6:p.Val704Gly
ENST00000559340.2:c.1713T>G ENSP00000453696.2:p.Ser571Arg
ENST00000560467.2:c.1733T>G ENSP00000453513.2:p.Val578Gly
ENST00000558518.6:c.1853T>G MANE Select ENSP00000454071.1:p.Val618Gly
ENST00000252444.9:c.2107T>G
ENST00000455727.6:c.1349T>G ENSP00000397829.2:p.Val450Gly
ENST00000535915.5:c.1730T>G ENSP00000440520.1:p.Val577Gly
ENST00000545707.5:c.1472T>G ENSP00000437639.1:p.Val491Gly
ENST00000557933.5:c.1853T>G ENSP00000453557.1:p.Val618Gly
ENST00000558013.5:c.1853T>G ENSP00000453346.1:p.Val618Gly
ENST00000558518.5:c.1853T>G ENSP00000454071.1:p.Val618Gly
ENST00000559340.1:c.434T>G
NM_000527.4:c.1853T>G , LRG_274t1:c.1853T>G NP_000518.1:p.Val618Gly
NM_001195798.1:c.1853T>G NP_001182727.1:p.Val618Gly
NM_001195799.1:c.1730T>G NP_001182728.1:p.Val577Gly
NM_001195800.1:c.1349T>G NP_001182729.1:p.Val450Gly
NM_001195803.1:c.1472T>G NP_001182732.1:p.Val491Gly
XM_011528010.1:c.1853T>G XP_011526312.1:p.Val618Gly
XM_011528011.1:c.1472T>G XP_011526313.1:p.Val491Gly
XR_244074.2:n.1863T>G
XM_011528010.2:c.1853T>G XP_011526312.1:p.Val618Gly
XR_001753685.2:n.1970T>G
XR_001753686.2:n.1830T>G
NM_000527.5:c.1853T>G MANE Select NP_000518.1:p.Val618Gly
NM_001195798.2:c.1853T>G NP_001182727.1:p.Val618Gly
NM_001195799.2:c.1730T>G NP_001182728.1:p.Val577Gly
NM_001195800.2:c.1349T>G NP_001182729.1:p.Val450Gly
NM_001195803.2:c.1472T>G NP_001182732.1:p.Val491Gly
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