Canonical Allele Identifier: CA404085094
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2916773
ClinVar RCV Id: RCV003741060
dbSNP Id: rs779732323
MyVariant Identifiers: chr19:g.11224074T>G (hg19) chr19:g.11113398T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113398T>G , CM000681.2:g.11113398T>G GRCh38
NC_000019.9:g.11224074T>G , CM000681.1:g.11224074T>G GRCh37
NC_000019.8:g.11085074T>G NCBI36
NG_009060.1:g.29018T>G , LRG_274:g.29018T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1565T>G ENSP00000252444.6:p.Val522Gly
ENST00000559340.2:c.1307T>G ENSP00000453696.2:p.Val436Gly
ENST00000560467.2:c.1187T>G ENSP00000453513.2:p.Val396Gly
ENST00000558518.6:c.1307T>G MANE Select ENSP00000454071.1:p.Val436Gly
ENST00000252444.9:c.1561T>G
ENST00000455727.6:c.803T>G ENSP00000397829.2:p.Val268Gly
ENST00000535915.5:c.1184T>G ENSP00000440520.1:p.Val395Gly
ENST00000545707.5:c.926T>G ENSP00000437639.1:p.Val309Gly
ENST00000557933.5:c.1307T>G ENSP00000453557.1:p.Val436Gly
ENST00000558013.5:c.1307T>G ENSP00000453346.1:p.Val436Gly
ENST00000558518.5:c.1307T>G ENSP00000454071.1:p.Val436Gly
ENST00000559340.1:c.28T>G
ENST00000560173.1:n.306T>G
ENST00000560467.1:c.787T>G
NM_000527.4:c.1307T>G , LRG_274t1:c.1307T>G NP_000518.1:p.Val436Gly
NM_001195798.1:c.1307T>G NP_001182727.1:p.Val436Gly
NM_001195799.1:c.1184T>G NP_001182728.1:p.Val395Gly
NM_001195800.1:c.803T>G NP_001182729.1:p.Val268Gly
NM_001195803.1:c.926T>G NP_001182732.1:p.Val309Gly
XM_011528010.1:c.1307T>G XP_011526312.1:p.Val436Gly
XM_011528011.1:c.926T>G XP_011526313.1:p.Val309Gly
XR_244074.2:n.1457T>G
XM_011528010.2:c.1307T>G XP_011526312.1:p.Val436Gly
XR_001753685.2:n.1424T>G
XR_001753686.2:n.1424T>G
NM_000527.5:c.1307T>G MANE Select NP_000518.1:p.Val436Gly
NM_001195798.2:c.1307T>G NP_001182727.1:p.Val436Gly
NM_001195799.2:c.1184T>G NP_001182728.1:p.Val395Gly
NM_001195800.2:c.803T>G NP_001182729.1:p.Val268Gly
NM_001195803.2:c.926T>G NP_001182732.1:p.Val309Gly
Search 100 bp 5'
Search 100 bp 3'