Canonical Allele Identifier: CA2322770745

Gene: LDLR

Linked Data

• ClinVar Variation Id: 998054
• ClinVar RCV Id: RCV001293741
• dbSNP Id: rs2077377269

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11111582dup , CM000681.2:g.11111582dup	GRCh38
NC_000019.9:g.11222258dup , CM000681.1:g.11222258dup	GRCh37
NC_000019.8:g.11083258dup	NCBI36
NG_009060.1:g.27202dup , LRG_274:g.27202dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1387dup	ENSP00000252444.6:p.Cys463LeufsTer4
ENST00000559340.2:c.1129dup	ENSP00000453696.2:p.Cys377LeufsTer4
ENST00000560467.2:c.1009dup	ENSP00000453513.2:p.Cys337LeufsTer4
ENST00000558518.6:c.1129dup MANE Select	ENSP00000454071.1:p.Cys377LeufsTer4
ENST00000252444.9:c.1383dup
ENST00000455727.6:c.625dup	ENSP00000397829.2:p.Cys209LeufsTer4
ENST00000535915.5:c.1006dup	ENSP00000440520.1:p.Cys336LeufsTer4
ENST00000545707.5:c.748dup	ENSP00000437639.1:p.Cys250LeufsTer4
ENST00000557933.5:c.1129dup	ENSP00000453557.1:p.Cys377LeufsTer4
ENST00000558013.5:c.1129dup	ENSP00000453346.1:p.Cys377LeufsTer4
ENST00000558518.5:c.1129dup	ENSP00000454071.1:p.Cys377LeufsTer4
ENST00000560173.1:n.128dup
ENST00000560467.1:c.609dup
NM_000527.4:c.1129dup , LRG_274t1:c.1129dup	NP_000518.1:p.Cys377LeufsTer4
NM_001195798.1:c.1129dup	NP_001182727.1:p.Cys377LeufsTer4
NM_001195799.1:c.1006dup	NP_001182728.1:p.Cys336LeufsTer4
NM_001195800.1:c.625dup	NP_001182729.1:p.Cys209LeufsTer4
NM_001195803.1:c.748dup	NP_001182732.1:p.Cys250LeufsTer4
XM_011528010.1:c.1129dup	XP_011526312.1:p.Cys377LeufsTer4
XM_011528011.1:c.748dup	XP_011526313.1:p.Cys250LeufsTer4
XR_244074.2:n.1279dup
XM_011528010.2:c.1129dup	XP_011526312.1:p.Cys377LeufsTer4
XR_001753685.2:n.1246dup
XR_001753686.2:n.1246dup
NM_000527.5:c.1129dup MANE Select	NP_000518.1:p.Cys377LeufsTer4
NM_001195798.2:c.1129dup	NP_001182727.1:p.Cys377LeufsTer4
NM_001195799.2:c.1006dup	NP_001182728.1:p.Cys336LeufsTer4
NM_001195800.2:c.625dup	NP_001182729.1:p.Cys209LeufsTer4
NM_001195803.2:c.748dup	NP_001182732.1:p.Cys250LeufsTer4