Canonical Allele Identifier: CA658653700

Gene: LDLR

Linked Data

• ClinVar Variation Id: 441185
• ClinVar RCV Id: RCV000509442
• dbSNP Id: rs1555803254
• MyVariant Identifiers: chr19:g.11216022_11216032dup (hg19) ; chr19:g.11105346_11105356dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105346_11105356dup , CM000681.2:g.11105346_11105356dup	GRCh38
NC_000019.9:g.11216022_11216032dup , CM000681.1:g.11216022_11216032dup	GRCh37
NC_000019.8:g.11077022_11077032dup	NCBI36
NG_009060.1:g.20966_20976dup , LRG_274:g.20966_20976dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.698_708dup	ENSP00000252444.6:p.Ala237ProfsTer?
ENST00000559340.2:c.440_450dup	ENSP00000453696.2:p.Ala151ProfsTer?
ENST00000560467.2:c.440_450dup	ENSP00000453513.2:p.Ala151ProfsTer?
ENST00000558518.6:c.440_450dup MANE Select	ENSP00000454071.1:p.Ala151ProfsTer?
ENST00000252444.9:c.694_704dup
ENST00000455727.6:c.314-2046_314-2036dup	ENSP00000397829.2:n.314-2046_314-2036dup
ENST00000535915.5:c.317_327dup	ENSP00000440520.1:p.Ala110ProfsTer?
ENST00000545707.5:c.314-1219_314-1209dup	ENSP00000437639.1:n.314-1219_314-1209dup
ENST00000557933.5:c.440_450dup	ENSP00000453557.1:p.Ala151ProfsTer?
ENST00000558013.5:c.440_450dup	ENSP00000453346.1:p.Ala151ProfsTer?
ENST00000558518.5:c.440_450dup	ENSP00000454071.1:p.Ala151ProfsTer?
ENST00000560467.1:c.40_50dup
NM_000527.4:c.440_450dup , LRG_274t1:c.440_450dup	NP_000518.1:p.Ala151ProfsTer?
NM_001195798.1:c.440_450dup	NP_001182727.1:p.Ala151ProfsTer?
NM_001195799.1:c.317_327dup	NP_001182728.1:p.Ala110ProfsTer?
NM_001195800.1:c.314-2046_314-2036dup	NP_001182729.1:n.314-2046_314-2036dup
NM_001195803.1:c.314-1219_314-1209dup	NP_001182732.1:n.314-1219_314-1209dup
XM_011528010.1:c.440_450dup	XP_011526312.1:p.Ala151ProfsTer?
XM_011528011.1:c.314-1219_314-1209dup	XP_011526313.1:n.314-1219_314-1209dup
XR_244074.2:n.590_600dup
XM_011528010.2:c.440_450dup	XP_011526312.1:p.Ala151ProfsTer?
XR_001753685.2:n.557_567dup
XR_001753686.2:n.557_567dup
NM_000527.5:c.440_450dup MANE Select	NP_000518.1:p.Ala151ProfsTer?
NM_001195798.2:c.440_450dup	NP_001182727.1:p.Ala151ProfsTer?
NM_001195799.2:c.317_327dup	NP_001182728.1:p.Ala110ProfsTer?
NM_001195800.2:c.314-2046_314-2036dup	NP_001182729.1:n.314-2046_314-2036dup
NM_001195803.2:c.314-1219_314-1209dup	NP_001182732.1:n.314-1219_314-1209dup