Canonical Allele Identifier: CA10585691

Gene: LDLR

Linked Data

• ClinVar Variation Id: 252124
• ClinVar RCV Id: RCV000238237
• dbSNP Id: rs879255082
• MyVariant Identifiers: chr19:g.11230868dupC (hg19) ; chr19:g.11120192dupC (hg38)
• PubMed: PMID:9259195

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120192dup , CM000681.2:g.11120192dup	GRCh38
NC_000019.9:g.11230868dup , CM000681.1:g.11230868dup	GRCh37
NC_000019.8:g.11091868dup	NCBI36
NG_009060.1:g.35812dup , LRG_274:g.35812dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2204dup	ENSP00000252444.6:p.Glu736ArgfsTer19
ENST00000559340.2:c.*15dup	ENSP00000453696.2:n.*15dup
ENST00000560467.2:c.1826dup	ENSP00000453513.2:p.Glu610ArgfsTer19
ENST00000558518.6:c.1946dup MANE Select	ENSP00000454071.1:p.Glu650ArgfsTer19
ENST00000252444.9:c.2200dup
ENST00000455727.6:c.1442dup	ENSP00000397829.2:p.Glu482ArgfsTer19
ENST00000535915.5:c.1823dup	ENSP00000440520.1:p.Glu609ArgfsTer19
ENST00000545707.5:c.1565dup	ENSP00000437639.1:p.Glu523ArgfsTer16
ENST00000557933.5:c.1946dup	ENSP00000453557.1:p.Glu650ArgfsTer19
ENST00000558013.5:c.1946dup	ENSP00000453346.1:p.Glu650ArgfsTer19
ENST00000558518.5:c.1946dup	ENSP00000454071.1:p.Glu650ArgfsTer19
ENST00000559340.1:c.527dup
NM_000527.4:c.1946dup , LRG_274t1:c.1946dup	NP_000518.1:p.Glu650ArgfsTer19
NM_001195798.1:c.1946dup	NP_001182727.1:p.Glu650ArgfsTer19
NM_001195799.1:c.1823dup	NP_001182728.1:p.Glu609ArgfsTer19
NM_001195800.1:c.1442dup	NP_001182729.1:p.Glu482ArgfsTer19
NM_001195803.1:c.1565dup	NP_001182732.1:p.Glu523ArgfsTer16
XM_011528010.1:c.1946dup	XP_011526312.1:p.Glu650ArgfsTer19
XM_011528011.1:c.1565dup	XP_011526313.1:p.Glu523ArgfsTer19
XR_244074.2:n.1956dup
XM_011528010.2:c.1946dup	XP_011526312.1:p.Glu650ArgfsTer19
XR_001753685.2:n.2063dup
XR_001753686.2:n.1923dup
NM_000527.5:c.1946dup MANE Select	NP_000518.1:p.Glu650ArgfsTer19
NM_001195798.2:c.1946dup	NP_001182727.1:p.Glu650ArgfsTer19
NM_001195799.2:c.1823dup	NP_001182728.1:p.Glu609ArgfsTer19
NM_001195800.2:c.1442dup	NP_001182729.1:p.Glu482ArgfsTer19
NM_001195803.2:c.1565dup	NP_001182732.1:p.Glu523ArgfsTer16