Canonical Allele Identifier: CA891844317

Gene: LDLR

Linked Data

• ClinVar Variation Id: 580835
• ClinVar RCV Id: RCV002232971
• dbSNP Id: rs1568606711
• MyVariant Identifiers: chr19:g.11226778_11226779dup (hg19) ; chr19:g.11116102_11116103dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116102_11116103dup , CM000681.2:g.11116102_11116103dup	GRCh38
NC_000019.9:g.11226778_11226779dup , CM000681.1:g.11226778_11226779dup	GRCh37
NC_000019.8:g.11087778_11087779dup	NCBI36
NG_009060.1:g.31722_31723dup , LRG_274:g.31722_31723dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1853_1854dup	ENSP00000252444.6:p.Trp619ThrfsTer16
ENST00000559340.2:c.1595_1596dup	ENSP00000453696.2:p.Trp533ThrfsTer16
ENST00000560467.2:c.1475_1476dup	ENSP00000453513.2:p.Trp493ThrfsTer16
ENST00000558518.6:c.1595_1596dup MANE Select	ENSP00000454071.1:p.Trp533ThrfsTer16
ENST00000252444.9:c.1849_1850dup
ENST00000455727.6:c.1091_1092dup	ENSP00000397829.2:p.Trp365ThrfsTer16
ENST00000535915.5:c.1472_1473dup	ENSP00000440520.1:p.Trp492ThrfsTer16
ENST00000545707.5:c.1214_1215dup	ENSP00000437639.1:p.Trp406ThrfsTer16
ENST00000557933.5:c.1595_1596dup	ENSP00000453557.1:p.Trp533ThrfsTer16
ENST00000558013.5:c.1595_1596dup	ENSP00000453346.1:p.Trp533ThrfsTer16
ENST00000558518.5:c.1595_1596dup	ENSP00000454071.1:p.Trp533ThrfsTer16
ENST00000559340.1:c.316_317dup
NM_000527.4:c.1595_1596dup , LRG_274t1:c.1595_1596dup	NP_000518.1:p.Trp533ThrfsTer16
NM_001195798.1:c.1595_1596dup	NP_001182727.1:p.Trp533ThrfsTer16
NM_001195799.1:c.1472_1473dup	NP_001182728.1:p.Trp492ThrfsTer16
NM_001195800.1:c.1091_1092dup	NP_001182729.1:p.Trp365ThrfsTer16
NM_001195803.1:c.1214_1215dup	NP_001182732.1:p.Trp406ThrfsTer16
XM_011528010.1:c.1595_1596dup	XP_011526312.1:p.Trp533ThrfsTer16
XM_011528011.1:c.1214_1215dup	XP_011526313.1:p.Trp406ThrfsTer16
XR_244074.2:n.1745_1746dup
XM_011528010.2:c.1595_1596dup	XP_011526312.1:p.Trp533ThrfsTer16
XR_001753685.2:n.1712_1713dup
XR_001753686.2:n.1712_1713dup
NM_000527.5:c.1595_1596dup MANE Select	NP_000518.1:p.Trp533ThrfsTer16
NM_001195798.2:c.1595_1596dup	NP_001182727.1:p.Trp533ThrfsTer16
NM_001195799.2:c.1472_1473dup	NP_001182728.1:p.Trp492ThrfsTer16
NM_001195800.2:c.1091_1092dup	NP_001182729.1:p.Trp365ThrfsTer16
NM_001195803.2:c.1214_1215dup	NP_001182732.1:p.Trp406ThrfsTer16