Canonical Allele Identifier: CA2322770318

Gene: LDLR

Linked Data

• ClinVar Variation Id: 2770467
• ClinVar RCV Id: RCV003582033
• dbSNP Id: rs2738442

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11110778C>G , CM000681.2:g.11110778C>G	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1318+7C>G	ENSP00000252444.6:n.1318+7C>G
ENST00000559340.2:c.1060+7C>G	ENSP00000453696.2:n.1060+7C>G
ENST00000560467.2:c.941-736C>G	ENSP00000453513.2:n.941-736C>G
ENST00000558518.6:c.1060+7C>G MANE Select	ENSP00000454071.1:n.1060+7C>G
ENST00000252444.9:c.1314+7C>G
ENST00000455727.6:c.556+7C>G	ENSP00000397829.2:n.556+7C>G
ENST00000535915.5:c.937+7C>G	ENSP00000440520.1:n.937+7C>G
ENST00000545707.5:c.679+7C>G	ENSP00000437639.1:n.679+7C>G
ENST00000557933.5:c.1060+7C>G	ENSP00000453557.1:n.1060+7C>G
ENST00000558013.5:c.1060+7C>G	ENSP00000453346.1:n.1060+7C>G
ENST00000558518.5:c.1060+7C>G	ENSP00000454071.1:n.1060+7C>G
ENST00000560173.1:n.59+7C>G
ENST00000560467.1:c.541-736C>G
NM_000527.4:c.1060+7C>G , LRG_274t1:c.1060+7C>G	NP_000518.1:n.1060+7C>G
NM_001195798.1:c.1060+7C>G	NP_001182727.1:n.1060+7C>G
NM_001195799.1:c.937+7C>G	NP_001182728.1:n.937+7C>G
NM_001195800.1:c.556+7C>G	NP_001182729.1:n.556+7C>G
NM_001195803.1:c.679+7C>G	NP_001182732.1:n.679+7C>G
XM_011528010.1:c.1060+7C>G	XP_011526312.1:n.1060+7C>G
XM_011528011.1:c.679+7C>G	XP_011526313.1:n.679+7C>G
XR_244074.2:n.1210+7C>G
XM_011528010.2:c.1060+7C>G	XP_011526312.1:n.1060+7C>G
XR_001753685.2:n.1177+7C>G
XR_001753686.2:n.1177+7C>G
NM_000527.5:c.1060+7C>G MANE Select	NP_000518.1:n.1060+7C>G
NM_001195798.2:c.1060+7C>G	NP_001182727.1:n.1060+7C>G
NM_001195799.2:c.937+7C>G	NP_001182728.1:n.937+7C>G
NM_001195800.2:c.556+7C>G	NP_001182729.1:n.556+7C>G
NM_001195803.2:c.679+7C>G	NP_001182732.1:n.679+7C>G