Canonical Allele Identifier: CA404084747

Gene: LDLR

Linked Data

• ClinVar Variation Id: 1986771
• ClinVar RCV Id: RCV002805603
• MyVariant Identifiers: chr19:g.11224005C>G (hg19) ; chr19:g.11113329C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113329C>G , CM000681.2:g.11113329C>G	GRCh38
NC_000019.9:g.11224005C>G , CM000681.1:g.11224005C>G	GRCh37
NC_000019.8:g.11085005C>G	NCBI36
NG_009060.1:g.28949C>G , LRG_274:g.28949C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1496C>G	ENSP00000252444.6:p.Thr499Arg
ENST00000559340.2:c.1238C>G	ENSP00000453696.2:p.Thr413Arg
ENST00000560467.2:c.1118C>G	ENSP00000453513.2:p.Thr373Arg
ENST00000558518.6:c.1238C>G MANE Select	ENSP00000454071.1:p.Thr413Arg
ENST00000252444.9:c.1492C>G
ENST00000455727.6:c.734C>G	ENSP00000397829.2:p.Thr245Arg
ENST00000535915.5:c.1115C>G	ENSP00000440520.1:p.Thr372Arg
ENST00000545707.5:c.857C>G	ENSP00000437639.1:p.Thr286Arg
ENST00000557933.5:c.1238C>G	ENSP00000453557.1:p.Thr413Arg
ENST00000558013.5:c.1238C>G	ENSP00000453346.1:p.Thr413Arg
ENST00000558518.5:c.1238C>G	ENSP00000454071.1:p.Thr413Arg
ENST00000560173.1:n.237C>G
ENST00000560467.1:c.718C>G
NM_000527.4:c.1238C>G , LRG_274t1:c.1238C>G	NP_000518.1:p.Thr413Arg
NM_001195798.1:c.1238C>G	NP_001182727.1:p.Thr413Arg
NM_001195799.1:c.1115C>G	NP_001182728.1:p.Thr372Arg
NM_001195800.1:c.734C>G	NP_001182729.1:p.Thr245Arg
NM_001195803.1:c.857C>G	NP_001182732.1:p.Thr286Arg
XM_011528010.1:c.1238C>G	XP_011526312.1:p.Thr413Arg
XM_011528011.1:c.857C>G	XP_011526313.1:p.Thr286Arg
XR_244074.2:n.1388C>G
XM_011528010.2:c.1238C>G	XP_011526312.1:p.Thr413Arg
XR_001753685.2:n.1355C>G
XR_001753686.2:n.1355C>G
NM_000527.5:c.1238C>G MANE Select	NP_000518.1:p.Thr413Arg
NM_001195798.2:c.1238C>G	NP_001182727.1:p.Thr413Arg
NM_001195799.2:c.1115C>G	NP_001182728.1:p.Thr372Arg
NM_001195800.2:c.734C>G	NP_001182729.1:p.Thr245Arg
NM_001195803.2:c.857C>G	NP_001182732.1:p.Thr286Arg