Canonical Allele Identifier: CA16602354
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 375841
ClinVar RCV Id: RCV000417230
dbSNP Id: rs1057519690

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129605dup , CM000681.2:g.11129605dup GRCh38
NC_000019.9:g.11240281dup , CM000681.1:g.11240281dup GRCh37
NC_000019.8:g.11101281dup NCBI36
NG_009060.1:g.45225dup , LRG_274:g.45225dup

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.2740dup ENSP00000252444.6:p.Tyr914LeufsTer8
ENST00000559340.2:c.*551dup ENSP00000453696.2:n.*551dup
ENST00000560467.2:c.2362dup ENSP00000453513.2:p.Tyr788LeufsTer8
ENST00000558518.6:c.2482dup MANE Select ENSP00000454071.1:p.Tyr828LeufsTer8
ENST00000252444.9:c.2736dup
ENST00000455727.6:c.1978dup ENSP00000397829.2:p.Tyr660LeufsTer8
ENST00000535915.5:c.2359dup ENSP00000440520.1:p.Tyr787LeufsTer8
ENST00000545707.5:c.1948dup ENSP00000437639.1:p.Tyr650LeufsTer8
ENST00000557933.5:c.2544dup ENSP00000453557.1:p.Ile849TyrfsTer?
ENST00000558013.5:c.2482dup ENSP00000453346.1:p.Tyr828LeufsTer8
ENST00000558518.5:c.2482dup ENSP00000454071.1:p.Tyr828LeufsTer8
ENST00000560628.1:n.108+1951dup
NM_000527.4:c.2482dup , LRG_274t1:c.2482dup NP_000518.1:p.Tyr828LeufsTer8
NM_001195798.1:c.2482dup NP_001182727.1:p.Tyr828LeufsTer8
NM_001195799.1:c.2359dup NP_001182728.1:p.Tyr787LeufsTer8
NM_001195800.1:c.1978dup NP_001182729.1:p.Tyr660LeufsTer8
NM_001195803.1:c.1948dup NP_001182732.1:p.Tyr650LeufsTer8
XM_011528010.1:c.2404dup XP_011526312.1:p.Tyr802LeufsTer8
XM_011528011.1:c.2101dup XP_011526313.1:p.Tyr701LeufsTer8
XM_011528010.2:c.2404dup XP_011526312.1:p.Tyr802LeufsTer8
XR_001753685.2:n.2816dup
XR_001753686.2:n.2459dup
NM_000527.5:c.2482dup MANE Select NP_000518.1:p.Tyr828LeufsTer8
NM_001195798.2:c.2482dup NP_001182727.1:p.Tyr828LeufsTer8
NM_001195799.2:c.2359dup NP_001182728.1:p.Tyr787LeufsTer8
NM_001195800.2:c.1978dup NP_001182729.1:p.Tyr660LeufsTer8
NM_001195803.2:c.1948dup NP_001182732.1:p.Tyr650LeufsTer8