Canonical Allele Identifier: CA658653708

Gene: LDLR

Linked Data

• ClinVar Variation Id: 441200
• ClinVar RCV Id: RCV000509323
• dbSNP Id: rs1555803912
• MyVariant Identifiers: chr19:g.11218178dup (hg19) ; chr19:g.11107502dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11107502dup , CM000681.2:g.11107502dup	GRCh38
NC_000019.9:g.11218178dup , CM000681.1:g.11218178dup	GRCh37
NC_000019.8:g.11079178dup	NCBI36
NG_009060.1:g.23122dup , LRG_274:g.23122dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1186dup	ENSP00000252444.6:p.Ile396AsnfsTer22
ENST00000559340.2:c.928dup	ENSP00000453696.2:p.Ile310AsnfsTer22
ENST00000560467.2:c.928dup	ENSP00000453513.2:p.Ile310AsnfsTer8
ENST00000558518.6:c.928dup MANE Select	ENSP00000454071.1:p.Ile310AsnfsTer22
ENST00000252444.9:c.1182dup
ENST00000455727.6:c.424dup	ENSP00000397829.2:p.Ile142AsnfsTer22
ENST00000535915.5:c.805dup	ENSP00000440520.1:p.Ile269AsnfsTer22
ENST00000545707.5:c.547dup	ENSP00000437639.1:p.Ile183AsnfsTer22
ENST00000557933.5:c.928dup	ENSP00000453557.1:p.Ile310AsnfsTer22
ENST00000558013.5:c.928dup	ENSP00000453346.1:p.Ile310AsnfsTer22
ENST00000558518.5:c.928dup	ENSP00000454071.1:p.Ile310AsnfsTer22
ENST00000558528.1:n.443dup
ENST00000560467.1:c.528dup
NM_000527.4:c.928dup , LRG_274t1:c.928dup	NP_000518.1:p.Ile310AsnfsTer22
NM_001195798.1:c.928dup	NP_001182727.1:p.Ile310AsnfsTer22
NM_001195799.1:c.805dup	NP_001182728.1:p.Ile269AsnfsTer22
NM_001195800.1:c.424dup	NP_001182729.1:p.Ile142AsnfsTer22
NM_001195803.1:c.547dup	NP_001182732.1:p.Ile183AsnfsTer22
XM_011528010.1:c.928dup	XP_011526312.1:p.Ile310AsnfsTer22
XM_011528011.1:c.547dup	XP_011526313.1:p.Ile183AsnfsTer22
XR_244074.2:n.1078dup
XM_011528010.2:c.928dup	XP_011526312.1:p.Ile310AsnfsTer22
XR_001753685.2:n.1045dup
XR_001753686.2:n.1045dup
NM_000527.5:c.928dup MANE Select	NP_000518.1:p.Ile310AsnfsTer22
NM_001195798.2:c.928dup	NP_001182727.1:p.Ile310AsnfsTer22
NM_001195799.2:c.805dup	NP_001182728.1:p.Ile269AsnfsTer22
NM_001195800.2:c.424dup	NP_001182729.1:p.Ile142AsnfsTer22
NM_001195803.2:c.547dup	NP_001182732.1:p.Ile183AsnfsTer22