Canonical Allele Identifier: CA10584867

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251168
• ClinVar RCV Id: RCV000237440
• dbSNP Id: rs879254487
• MyVariant Identifiers: chr19:g.11215932_11215954dup23 (hg19) ; chr19:g.11105256_11105278dup23 (hg38)
• PubMed: PMID:20809525

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105256_11105278dup , CM000681.2:g.11105256_11105278dup	GRCh38
NC_000019.9:g.11215932_11215954dup , CM000681.1:g.11215932_11215954dup	GRCh37
NC_000019.8:g.11076932_11076954dup	NCBI36
NG_009060.1:g.20876_20898dup , LRG_274:g.20876_20898dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.608_630dup	ENSP00000252444.6:p.Gln211ThrfsTer?
ENST00000559340.2:c.350_372dup	ENSP00000453696.2:p.Gln125ThrfsTer?
ENST00000560467.2:c.350_372dup	ENSP00000453513.2:p.Gln125ThrfsTer?
ENST00000558518.6:c.350_372dup MANE Select	ENSP00000454071.1:p.Gln125ThrfsTer?
ENST00000252444.9:c.604_626dup
ENST00000455727.6:c.314-2136_314-2114dup	ENSP00000397829.2:n.314-2136_314-2114dup
ENST00000535915.5:c.227_249dup	ENSP00000440520.1:p.Gln84ThrfsTer?
ENST00000545707.5:c.314-1309_314-1287dup	ENSP00000437639.1:n.314-1309_314-1287dup
ENST00000557933.5:c.350_372dup	ENSP00000453557.1:p.Gln125ThrfsTer?
ENST00000558013.5:c.350_372dup	ENSP00000453346.1:p.Gln125ThrfsTer?
ENST00000558518.5:c.350_372dup	ENSP00000454071.1:p.Gln125ThrfsTer?
NM_000527.4:c.350_372dup , LRG_274t1:c.350_372dup	NP_000518.1:p.Gln125ThrfsTer?
NM_001195798.1:c.350_372dup	NP_001182727.1:p.Gln125ThrfsTer?
NM_001195799.1:c.227_249dup	NP_001182728.1:p.Gln84ThrfsTer?
NM_001195800.1:c.314-2136_314-2114dup	NP_001182729.1:n.314-2136_314-2114dup
NM_001195803.1:c.314-1309_314-1287dup	NP_001182732.1:n.314-1309_314-1287dup
XM_011528010.1:c.350_372dup	XP_011526312.1:p.Gln125ThrfsTer?
XM_011528011.1:c.314-1309_314-1287dup	XP_011526313.1:n.314-1309_314-1287dup
XR_244074.2:n.500_522dup
XM_011528010.2:c.350_372dup	XP_011526312.1:p.Gln125ThrfsTer?
XR_001753685.2:n.467_489dup
XR_001753686.2:n.467_489dup
NM_000527.5:c.350_372dup MANE Select	NP_000518.1:p.Gln125ThrfsTer?
NM_001195798.2:c.350_372dup	NP_001182727.1:p.Gln125ThrfsTer?
NM_001195799.2:c.227_249dup	NP_001182728.1:p.Gln84ThrfsTer?
NM_001195800.2:c.314-2136_314-2114dup	NP_001182729.1:n.314-2136_314-2114dup
NM_001195803.2:c.314-1309_314-1287dup	NP_001182732.1:n.314-1309_314-1287dup