Canonical Allele Identifier: CA305300112
Gene: LDLR HGNC NCBI

Linked Data

dbSNP Id: rs752683413
gnomAD v4: 19-11113640-C-G
MyVariant Identifiers: chr19:g.11224316C>G (hg19) chr19:g.11113640C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113640C>G , CM000681.2:g.11113640C>G GRCh38
NC_000019.9:g.11224316C>G , CM000681.1:g.11224316C>G GRCh37
NC_000019.8:g.11085316C>G NCBI36
NG_009060.1:g.29260C>G , LRG_274:g.29260C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1722C>G ENSP00000252444.6:p.Ile574Met
ENST00000559340.2:c.1464C>G ENSP00000453696.2:p.Ile488Met
ENST00000560467.2:c.1344C>G ENSP00000453513.2:p.Ile448Met
ENST00000558518.6:c.1464C>G MANE Select ENSP00000454071.1:p.Ile488Met
ENST00000252444.9:c.1718C>G
ENST00000455727.6:c.960C>G ENSP00000397829.2:p.Ile320Met
ENST00000535915.5:c.1341C>G ENSP00000440520.1:p.Ile447Met
ENST00000545707.5:c.1083C>G ENSP00000437639.1:p.Ile361Met
ENST00000557933.5:c.1464C>G ENSP00000453557.1:p.Ile488Met
ENST00000558013.5:c.1464C>G ENSP00000453346.1:p.Ile488Met
ENST00000558518.5:c.1464C>G ENSP00000454071.1:p.Ile488Met
ENST00000559340.1:c.185C>G
NM_000527.4:c.1464C>G , LRG_274t1:c.1464C>G NP_000518.1:p.Ile488Met
NM_001195798.1:c.1464C>G NP_001182727.1:p.Ile488Met
NM_001195799.1:c.1341C>G NP_001182728.1:p.Ile447Met
NM_001195800.1:c.960C>G NP_001182729.1:p.Ile320Met
NM_001195803.1:c.1083C>G NP_001182732.1:p.Ile361Met
XM_011528010.1:c.1464C>G XP_011526312.1:p.Ile488Met
XM_011528011.1:c.1083C>G XP_011526313.1:p.Ile361Met
XR_244074.2:n.1614C>G
XM_011528010.2:c.1464C>G XP_011526312.1:p.Ile488Met
XR_001753685.2:n.1581C>G
XR_001753686.2:n.1581C>G
NM_000527.5:c.1464C>G MANE Select NP_000518.1:p.Ile488Met
NM_001195798.2:c.1464C>G NP_001182727.1:p.Ile488Met
NM_001195799.2:c.1341C>G NP_001182728.1:p.Ile447Met
NM_001195800.2:c.960C>G NP_001182729.1:p.Ile320Met
NM_001195803.2:c.1083C>G NP_001182732.1:p.Ile361Met
Search 100 bp 5'
Search 100 bp 3'