Canonical Allele Identifier: CA658684220

Gene: LDLR

Linked Data

• ClinVar Variation Id: 496021
• ClinVar RCV Id: RCV002413665
• dbSNP Id: rs1555807206
• MyVariant Identifiers: chr19:g.11230789dup (hg19) ; chr19:g.11120113dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120113dup , CM000681.2:g.11120113dup	GRCh38
NC_000019.9:g.11230789dup , CM000681.1:g.11230789dup	GRCh37
NC_000019.8:g.11091789dup	NCBI36
NG_009060.1:g.35733dup , LRG_274:g.35733dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2125dup	ENSP00000252444.6:p.Ile709AsnfsTer22
ENST00000559340.2:c.1727dup	ENSP00000453696.2:p.Tyr576Ter
ENST00000560467.2:c.1747dup	ENSP00000453513.2:p.Ile583AsnfsTer22
ENST00000558518.6:c.1867dup MANE Select	ENSP00000454071.1:p.Ile623AsnfsTer22
ENST00000252444.9:c.2121dup
ENST00000455727.6:c.1363dup	ENSP00000397829.2:p.Ile455AsnfsTer22
ENST00000535915.5:c.1744dup	ENSP00000440520.1:p.Ile582AsnfsTer22
ENST00000545707.5:c.1486dup	ENSP00000437639.1:p.Ile496AsnfsTer22
ENST00000557933.5:c.1867dup	ENSP00000453557.1:p.Ile623AsnfsTer22
ENST00000558013.5:c.1867dup	ENSP00000453346.1:p.Ile623AsnfsTer22
ENST00000558518.5:c.1867dup	ENSP00000454071.1:p.Ile623AsnfsTer22
ENST00000559340.1:c.448dup
NM_000527.4:c.1867dup , LRG_274t1:c.1867dup	NP_000518.1:p.Ile623AsnfsTer22
NM_001195798.1:c.1867dup	NP_001182727.1:p.Ile623AsnfsTer22
NM_001195799.1:c.1744dup	NP_001182728.1:p.Ile582AsnfsTer22
NM_001195800.1:c.1363dup	NP_001182729.1:p.Ile455AsnfsTer22
NM_001195803.1:c.1486dup	NP_001182732.1:p.Ile496AsnfsTer22
XM_011528010.1:c.1867dup	XP_011526312.1:p.Ile623AsnfsTer22
XM_011528011.1:c.1486dup	XP_011526313.1:p.Ile496AsnfsTer22
XR_244074.2:n.1877dup
XM_011528010.2:c.1867dup	XP_011526312.1:p.Ile623AsnfsTer22
XR_001753685.2:n.1984dup
XR_001753686.2:n.1844dup
NM_000527.5:c.1867dup MANE Select	NP_000518.1:p.Ile623AsnfsTer22
NM_001195798.2:c.1867dup	NP_001182727.1:p.Ile623AsnfsTer22
NM_001195799.2:c.1744dup	NP_001182728.1:p.Ile582AsnfsTer22
NM_001195800.2:c.1363dup	NP_001182729.1:p.Ile455AsnfsTer22
NM_001195803.2:c.1486dup	NP_001182732.1:p.Ile496AsnfsTer22