Canonical Allele Identifier: CA658799141

Gene: LDLR

Linked Data

• ClinVar Variation Id: 504145
• ClinVar RCV Id: RCV000599525 ; RCV002413687
• dbSNP Id: rs1555806526
• MyVariant Identifiers: chr19:g.11227637dup (hg19) ; chr19:g.11116961dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116961dup , CM000681.2:g.11116961dup	GRCh38
NC_000019.9:g.11227637dup , CM000681.1:g.11227637dup	GRCh37
NC_000019.8:g.11088637dup	NCBI36
NG_009060.1:g.32581dup , LRG_274:g.32581dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2066dup	ENSP00000252444.6:p.Arg690GlufsTer12
ENST00000559340.2:c.1705+749dup	ENSP00000453696.2:n.1705+749dup
ENST00000560467.2:c.1688dup	ENSP00000453513.2:p.Arg564GlufsTer12
ENST00000558518.6:c.1808dup MANE Select	ENSP00000454071.1:p.Arg604GlufsTer12
ENST00000252444.9:c.2062dup
ENST00000455727.6:c.1304dup	ENSP00000397829.2:p.Arg436GlufsTer12
ENST00000535915.5:c.1685dup	ENSP00000440520.1:p.Arg563GlufsTer12
ENST00000545707.5:c.1427dup	ENSP00000437639.1:p.Arg477GlufsTer12
ENST00000557933.5:c.1808dup	ENSP00000453557.1:p.Arg604GlufsTer12
ENST00000558013.5:c.1808dup	ENSP00000453346.1:p.Arg604GlufsTer12
ENST00000558518.5:c.1808dup	ENSP00000454071.1:p.Arg604GlufsTer12
ENST00000559340.1:c.426+749dup
NM_000527.4:c.1808dup , LRG_274t1:c.1808dup	NP_000518.1:p.Arg604GlufsTer12
NM_001195798.1:c.1808dup	NP_001182727.1:p.Arg604GlufsTer12
NM_001195799.1:c.1685dup	NP_001182728.1:p.Arg563GlufsTer12
NM_001195800.1:c.1304dup	NP_001182729.1:p.Arg436GlufsTer12
NM_001195803.1:c.1427dup	NP_001182732.1:p.Arg477GlufsTer12
XM_011528010.1:c.1808dup	XP_011526312.1:p.Arg604GlufsTer12
XM_011528011.1:c.1427dup	XP_011526313.1:p.Arg477GlufsTer12
XR_244074.2:n.1855+749dup
XM_011528010.2:c.1808dup	XP_011526312.1:p.Arg604GlufsTer12
XR_001753685.2:n.1925dup
XR_001753686.2:n.1822+749dup
NM_000527.5:c.1808dup MANE Select	NP_000518.1:p.Arg604GlufsTer12
NM_001195798.2:c.1808dup	NP_001182727.1:p.Arg604GlufsTer12
NM_001195799.2:c.1685dup	NP_001182728.1:p.Arg563GlufsTer12
NM_001195800.2:c.1304dup	NP_001182729.1:p.Arg436GlufsTer12
NM_001195803.2:c.1427dup	NP_001182732.1:p.Arg477GlufsTer12