Canonical Allele Identifier: CA10585755

Gene: LDLR

Linked Data

• ClinVar Variation Id: 252201
• ClinVar RCV Id: RCV000238333
• dbSNP Id: rs751228587
• MyVariant Identifiers: chr19:g.11231118dupT (hg19) ; chr19:g.11231118_11231119insT (hg19) ; chr19:g.11120442dupT (hg38) ; chr19:g.11120442_11120443insT (hg38)
• PubMed: PMID:22881376

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120442dup , CM000681.2:g.11120442dup	GRCh38
NC_000019.9:g.11231118dup , CM000681.1:g.11231118dup	GRCh37
NC_000019.8:g.11092118dup	NCBI36
NG_009060.1:g.36062dup , LRG_274:g.36062dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2318dup	ENSP00000252444.6:p.Asn774GlnfsTer29
ENST00000559340.2:c.*129dup	ENSP00000453696.2:n.*129dup
ENST00000560467.2:c.1940dup	ENSP00000453513.2:p.Asn648GlnfsTer29
ENST00000558518.6:c.2060dup MANE Select	ENSP00000454071.1:p.Asn688GlnfsTer29
ENST00000252444.9:c.2314dup
ENST00000455727.6:c.1556dup	ENSP00000397829.2:p.Asn520GlnfsTer29
ENST00000535915.5:c.1937dup	ENSP00000440520.1:p.Asn647GlnfsTer29
ENST00000545707.5:c.1606+209dup	ENSP00000437639.1:n.1606+209dup
ENST00000557933.5:c.2060dup	ENSP00000453557.1:p.Asn688GlnfsTer29
ENST00000558013.5:c.2060dup	ENSP00000453346.1:p.Asn688GlnfsTer29
ENST00000558518.5:c.2060dup	ENSP00000454071.1:p.Asn688GlnfsTer29
NM_000527.4:c.2060dup , LRG_274t1:c.2060dup	NP_000518.1:p.Asn688GlnfsTer29
NM_001195798.1:c.2060dup	NP_001182727.1:p.Asn688GlnfsTer29
NM_001195799.1:c.1937dup	NP_001182728.1:p.Asn647GlnfsTer29
NM_001195800.1:c.1556dup	NP_001182729.1:p.Asn520GlnfsTer29
NM_001195803.1:c.1606+209dup	NP_001182732.1:n.1606+209dup
XM_011528010.1:c.2060dup	XP_011526312.1:p.Asn688GlnfsTer29
XM_011528011.1:c.1679dup	XP_011526313.1:p.Asn561GlnfsTer29
XR_244074.2:n.2070dup
XM_011528010.2:c.2060dup	XP_011526312.1:p.Asn688GlnfsTer29
XR_001753685.2:n.2177dup
XR_001753686.2:n.2037dup
NM_000527.5:c.2060dup MANE Select	NP_000518.1:p.Asn688GlnfsTer29
NM_001195798.2:c.2060dup	NP_001182727.1:p.Asn688GlnfsTer29
NM_001195799.2:c.1937dup	NP_001182728.1:p.Asn647GlnfsTer29
NM_001195800.2:c.1556dup	NP_001182729.1:p.Asn520GlnfsTer29
NM_001195803.2:c.1606+209dup	NP_001182732.1:n.1606+209dup