Canonical Allele Identifier: CA2322770134

Gene: LDLR

Linked Data

• dbSNP Id: rs2077358001

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11110559dup , CM000681.2:g.11110559dup	GRCh38
NC_000019.9:g.11221235dup , CM000681.1:g.11221235dup	GRCh37
NC_000019.8:g.11082235dup	NCBI36
NG_009060.1:g.26179dup , LRG_274:g.26179dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1199-93dup	ENSP00000252444.6:n.1199-93dup
ENST00000559340.2:c.941-93dup	ENSP00000453696.2:n.941-93dup
ENST00000560467.2:c.941-955dup	ENSP00000453513.2:n.941-955dup
ENST00000558518.6:c.941-93dup MANE Select	ENSP00000454071.1:n.941-93dup
ENST00000252444.9:c.1195-93dup
ENST00000455727.6:c.437-93dup	ENSP00000397829.2:n.437-93dup
ENST00000535915.5:c.818-93dup	ENSP00000440520.1:n.818-93dup
ENST00000545707.5:c.560-93dup	ENSP00000437639.1:n.560-93dup
ENST00000557933.5:c.941-93dup	ENSP00000453557.1:n.941-93dup
ENST00000558013.5:c.941-93dup	ENSP00000453346.1:n.941-93dup
ENST00000558518.5:c.941-93dup	ENSP00000454071.1:n.941-93dup
ENST00000560467.1:c.541-955dup
NM_000527.4:c.941-93dup , LRG_274t1:c.941-93dup	NP_000518.1:n.941-93dup
NM_001195798.1:c.941-93dup	NP_001182727.1:n.941-93dup
NM_001195799.1:c.818-93dup	NP_001182728.1:n.818-93dup
NM_001195800.1:c.437-93dup	NP_001182729.1:n.437-93dup
NM_001195803.1:c.560-93dup	NP_001182732.1:n.560-93dup
XM_011528010.1:c.941-93dup	XP_011526312.1:n.941-93dup
XM_011528011.1:c.560-93dup	XP_011526313.1:n.560-93dup
XR_244074.2:n.1091-93dup
XM_011528010.2:c.941-93dup	XP_011526312.1:n.941-93dup
XR_001753685.2:n.1058-93dup
XR_001753686.2:n.1058-93dup
NM_000527.5:c.941-93dup MANE Select	NP_000518.1:n.941-93dup
NM_001195798.2:c.941-93dup	NP_001182727.1:n.941-93dup
NM_001195799.2:c.818-93dup	NP_001182728.1:n.818-93dup
NM_001195800.2:c.437-93dup	NP_001182729.1:n.437-93dup
NM_001195803.2:c.560-93dup	NP_001182732.1:n.560-93dup