Canonical Allele Identifier: CA10585737

Gene: LDLR

Linked Data

• ClinVar Variation Id: 252182
• ClinVar RCV Id: RCV000237900
• dbSNP Id: rs879255117
• MyVariant Identifiers: chr19:g.11231094dupA (hg19) ; chr19:g.11120418dupA (hg38)
• PubMed: PMID:16389549

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120418dup , CM000681.2:g.11120418dup	GRCh38
NC_000019.9:g.11231094dup , CM000681.1:g.11231094dup	GRCh37
NC_000019.8:g.11092094dup	NCBI36
NG_009060.1:g.36038dup , LRG_274:g.36038dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2294dup	ENSP00000252444.6:p.Tyr765Ter
ENST00000559340.2:c.*105dup	ENSP00000453696.2:n.*105dup
ENST00000560467.2:c.1916dup	ENSP00000453513.2:p.Tyr639Ter
ENST00000558518.6:c.2036dup MANE Select	ENSP00000454071.1:p.Tyr679Ter
ENST00000252444.9:c.2290dup
ENST00000455727.6:c.1532dup	ENSP00000397829.2:p.Tyr511Ter
ENST00000535915.5:c.1913dup	ENSP00000440520.1:p.Tyr638Ter
ENST00000545707.5:c.1606+185dup	ENSP00000437639.1:n.1606+185dup
ENST00000557933.5:c.2036dup	ENSP00000453557.1:p.Tyr679Ter
ENST00000558013.5:c.2036dup	ENSP00000453346.1:p.Tyr679Ter
ENST00000558518.5:c.2036dup	ENSP00000454071.1:p.Tyr679Ter
NM_000527.4:c.2036dup , LRG_274t1:c.2036dup	NP_000518.1:p.Tyr679Ter
NM_001195798.1:c.2036dup	NP_001182727.1:p.Tyr679Ter
NM_001195799.1:c.1913dup	NP_001182728.1:p.Tyr638Ter
NM_001195800.1:c.1532dup	NP_001182729.1:p.Tyr511Ter
NM_001195803.1:c.1606+185dup	NP_001182732.1:n.1606+185dup
XM_011528010.1:c.2036dup	XP_011526312.1:p.Tyr679Ter
XM_011528011.1:c.1655dup	XP_011526313.1:p.Tyr552Ter
XR_244074.2:n.2046dup
XM_011528010.2:c.2036dup	XP_011526312.1:p.Tyr679Ter
XR_001753685.2:n.2153dup
XR_001753686.2:n.2013dup
NM_000527.5:c.2036dup MANE Select	NP_000518.1:p.Tyr679Ter
NM_001195798.2:c.2036dup	NP_001182727.1:p.Tyr679Ter
NM_001195799.2:c.1913dup	NP_001182728.1:p.Tyr638Ter
NM_001195800.2:c.1532dup	NP_001182729.1:p.Tyr511Ter
NM_001195803.2:c.1606+185dup	NP_001182732.1:n.1606+185dup