Canonical Allele Identifier: CA645509270

Gene: LDLR

Linked Data

• ClinVar Variation Id: 440607
• ClinVar RCV Id: RCV000508801
• dbSNP Id: rs1555803837
• MyVariant Identifiers: chr19:g.11218089_11218098dup (hg19) ; chr19:g.11107413_11107422dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11107413_11107422dup , CM000681.2:g.11107413_11107422dup	GRCh38
NC_000019.9:g.11218089_11218098dup , CM000681.1:g.11218089_11218098dup	GRCh37
NC_000019.8:g.11079089_11079098dup	NCBI36
NG_009060.1:g.23033_23042dup , LRG_274:g.23033_23042dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1097_1106dup	ENSP00000252444.6:p.Cys370GlnfsTer20
ENST00000559340.2:c.839_848dup	ENSP00000453696.2:p.Cys284GlnfsTer20
ENST00000560467.2:c.839_848dup	ENSP00000453513.2:p.Cys284GlnfsTer20
ENST00000558518.6:c.839_848dup MANE Select	ENSP00000454071.1:p.Cys284GlnfsTer20
ENST00000252444.9:c.1093_1102dup
ENST00000455727.6:c.335_344dup	ENSP00000397829.2:p.Cys116GlnfsTer20
ENST00000535915.5:c.716_725dup	ENSP00000440520.1:p.Cys243GlnfsTer20
ENST00000545707.5:c.458_467dup	ENSP00000437639.1:p.Cys157GlnfsTer20
ENST00000557933.5:c.839_848dup	ENSP00000453557.1:p.Cys284GlnfsTer20
ENST00000558013.5:c.839_848dup	ENSP00000453346.1:p.Cys284GlnfsTer20
ENST00000558518.5:c.839_848dup	ENSP00000454071.1:p.Cys284GlnfsTer20
ENST00000558528.1:n.354_363dup
ENST00000560467.1:c.439_448dup
NM_000527.4:c.839_848dup , LRG_274t1:c.839_848dup	NP_000518.1:p.Cys284GlnfsTer20
NM_001195798.1:c.839_848dup	NP_001182727.1:p.Cys284GlnfsTer20
NM_001195799.1:c.716_725dup	NP_001182728.1:p.Cys243GlnfsTer20
NM_001195800.1:c.335_344dup	NP_001182729.1:p.Cys116GlnfsTer20
NM_001195803.1:c.458_467dup	NP_001182732.1:p.Cys157GlnfsTer20
XM_011528010.1:c.839_848dup	XP_011526312.1:p.Cys284GlnfsTer20
XM_011528011.1:c.458_467dup	XP_011526313.1:p.Cys157GlnfsTer20
XR_244074.2:n.989_998dup
XM_011528010.2:c.839_848dup	XP_011526312.1:p.Cys284GlnfsTer20
XR_001753685.2:n.956_965dup
XR_001753686.2:n.956_965dup
NM_000527.5:c.839_848dup MANE Select	NP_000518.1:p.Cys284GlnfsTer20
NM_001195798.2:c.839_848dup	NP_001182727.1:p.Cys284GlnfsTer20
NM_001195799.2:c.716_725dup	NP_001182728.1:p.Cys243GlnfsTer20
NM_001195800.2:c.335_344dup	NP_001182729.1:p.Cys116GlnfsTer20
NM_001195803.2:c.458_467dup	NP_001182732.1:p.Cys157GlnfsTer20