Canonical Allele Identifier: CA029271

Gene: LDLR

Linked Data

• ClinVar Variation Id: 927670
• ClinVar RCV Id: RCV001191079
• dbSNP Id: rs759109699
• ExAC: 19:11217306 C / G
• gnomAD v2: 19-11217306-C-G
• gnomAD v3: 19-11106630-C-G
• gnomAD v4: 19-11106630-C-G
• MyVariant Identifiers: chr19:g.11217306C>G (hg19) ; chr19:g.11106630C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11106630C>G , CM000681.2:g.11106630C>G	GRCh38
NC_000019.9:g.11217306C>G , CM000681.1:g.11217306C>G	GRCh37
NC_000019.8:g.11078306C>G	NCBI36
NG_009060.1:g.22250C>G , LRG_274:g.22250C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1018C>G	ENSP00000252444.6:p.Gln340Glu
ENST00000559340.2:c.760C>G	ENSP00000453696.2:p.Gln254Glu
ENST00000560467.2:c.760C>G	ENSP00000453513.2:p.Gln254Glu
ENST00000558518.6:c.760C>G MANE Select	ENSP00000454071.1:p.Gln254Glu
ENST00000252444.9:c.1014C>G
ENST00000455727.6:c.314-762C>G	ENSP00000397829.2:n.314-762C>G
ENST00000535915.5:c.637C>G	ENSP00000440520.1:p.Gln213Glu
ENST00000545707.5:c.379C>G	ENSP00000437639.1:p.Gln127Glu
ENST00000557933.5:c.760C>G	ENSP00000453557.1:p.Gln254Glu
ENST00000558013.5:c.760C>G	ENSP00000453346.1:p.Gln254Glu
ENST00000558518.5:c.760C>G	ENSP00000454071.1:p.Gln254Glu
ENST00000558528.1:n.275C>G
ENST00000560467.1:c.360C>G
NM_000527.4:c.760C>G , LRG_274t1:c.760C>G	NP_000518.1:p.Gln254Glu
NM_001195798.1:c.760C>G	NP_001182727.1:p.Gln254Glu
NM_001195799.1:c.637C>G	NP_001182728.1:p.Gln213Glu
NM_001195800.1:c.314-762C>G	NP_001182729.1:n.314-762C>G
NM_001195803.1:c.379C>G	NP_001182732.1:p.Gln127Glu
XM_011528010.1:c.760C>G	XP_011526312.1:p.Gln254Glu
XM_011528011.1:c.379C>G	XP_011526313.1:p.Gln127Glu
XR_244074.2:n.910C>G
XM_011528010.2:c.760C>G	XP_011526312.1:p.Gln254Glu
XR_001753685.2:n.877C>G
XR_001753686.2:n.877C>G
NM_000527.5:c.760C>G MANE Select	NP_000518.1:p.Gln254Glu
NM_001195798.2:c.760C>G	NP_001182727.1:p.Gln254Glu
NM_001195799.2:c.637C>G	NP_001182728.1:p.Gln213Glu
NM_001195800.2:c.314-762C>G	NP_001182729.1:n.314-762C>G
NM_001195803.2:c.379C>G	NP_001182732.1:p.Gln127Glu