Canonical Allele Identifier: CA915952550

Gene: LDLR

Linked Data

• ClinVar Variation Id: 660216
• ClinVar RCV Id: RCV000817361
• dbSNP Id: rs1600732894

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116154dup , CM000681.2:g.11116154dup	GRCh38
NC_000019.9:g.11226830dup , CM000681.1:g.11226830dup	GRCh37
NC_000019.8:g.11087830dup	NCBI36
NG_009060.1:g.31774dup , LRG_274:g.31774dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1905dup	ENSP00000252444.6:p.Val636CysfsTer9
ENST00000559340.2:c.1647dup	ENSP00000453696.2:p.Val550CysfsTer9
ENST00000560467.2:c.1527dup	ENSP00000453513.2:p.Val510CysfsTer9
ENST00000558518.6:c.1647dup MANE Select	ENSP00000454071.1:p.Val550CysfsTer9
ENST00000252444.9:c.1901dup
ENST00000455727.6:c.1143dup	ENSP00000397829.2:p.Val382CysfsTer9
ENST00000535915.5:c.1524dup	ENSP00000440520.1:p.Val509CysfsTer9
ENST00000545707.5:c.1266dup	ENSP00000437639.1:p.Val423CysfsTer9
ENST00000557933.5:c.1647dup	ENSP00000453557.1:p.Val550CysfsTer9
ENST00000558013.5:c.1647dup	ENSP00000453346.1:p.Val550CysfsTer9
ENST00000558518.5:c.1647dup	ENSP00000454071.1:p.Val550CysfsTer9
ENST00000559340.1:c.368dup
NM_000527.4:c.1647dup , LRG_274t1:c.1647dup	NP_000518.1:p.Val550CysfsTer9
NM_001195798.1:c.1647dup	NP_001182727.1:p.Val550CysfsTer9
NM_001195799.1:c.1524dup	NP_001182728.1:p.Val509CysfsTer9
NM_001195800.1:c.1143dup	NP_001182729.1:p.Val382CysfsTer9
NM_001195803.1:c.1266dup	NP_001182732.1:p.Val423CysfsTer9
XM_011528010.1:c.1647dup	XP_011526312.1:p.Val550CysfsTer9
XM_011528011.1:c.1266dup	XP_011526313.1:p.Val423CysfsTer9
XR_244074.2:n.1797dup
XM_011528010.2:c.1647dup	XP_011526312.1:p.Val550CysfsTer9
XR_001753685.2:n.1764dup
XR_001753686.2:n.1764dup
NM_000527.5:c.1647dup MANE Select	NP_000518.1:p.Val550CysfsTer9
NM_001195798.2:c.1647dup	NP_001182727.1:p.Val550CysfsTer9
NM_001195799.2:c.1524dup	NP_001182728.1:p.Val509CysfsTer9
NM_001195800.2:c.1143dup	NP_001182729.1:p.Val382CysfsTer9
NM_001195803.2:c.1266dup	NP_001182732.1:p.Val423CysfsTer9