Canonical Allele Identifier: CA404099627

Gene: LDLR

Linked Data

• ClinVar Variation Id: 923313
• ClinVar RCV Id: RCV001183888
• dbSNP Id: rs2077689379
• MyVariant Identifiers: chr19:g.11240313T>A (hg19) ; chr19:g.11129637T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11129637T>A , CM000681.2:g.11129637T>A	GRCh38
NC_000019.9:g.11240313T>A , CM000681.1:g.11240313T>A	GRCh37
NC_000019.8:g.11101313T>A	NCBI36
NG_009060.1:g.45257T>A , LRG_274:g.45257T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2772T>A	ENSP00000252444.6:p.Ile924=
ENST00000559340.2:c.*583T>A	ENSP00000453696.2:n.*583T>A
ENST00000560467.2:c.2394T>A	ENSP00000453513.2:p.Ile798=
ENST00000558518.6:c.2514T>A MANE Select	ENSP00000454071.1:p.Ile838=
ENST00000252444.9:c.2768T>A
ENST00000455727.6:c.2010T>A	ENSP00000397829.2:p.Ile670=
ENST00000535915.5:c.2391T>A	ENSP00000440520.1:p.Ile797=
ENST00000545707.5:c.1980T>A	ENSP00000437639.1:p.Ile660=
ENST00000557933.5:c.2576T>A	ENSP00000453557.1:p.Phe859Tyr
ENST00000558013.5:c.2514T>A	ENSP00000453346.1:p.Ile838=
ENST00000558518.5:c.2514T>A	ENSP00000454071.1:p.Ile838=
ENST00000560628.1:n.108+1983T>A
NM_000527.4:c.2514T>A , LRG_274t1:c.2514T>A	NP_000518.1:p.Ile838=
NM_001195798.1:c.2514T>A	NP_001182727.1:p.Ile838=
NM_001195799.1:c.2391T>A	NP_001182728.1:p.Ile797=
NM_001195800.1:c.2010T>A	NP_001182729.1:p.Ile670=
NM_001195803.1:c.1980T>A	NP_001182732.1:p.Ile660=
XM_011528010.1:c.2436T>A	XP_011526312.1:p.Ile812=
XM_011528011.1:c.2133T>A	XP_011526313.1:p.Ile711=
XM_011528010.2:c.2436T>A	XP_011526312.1:p.Ile812=
XR_001753685.2:n.2848T>A
XR_001753686.2:n.2491T>A
NM_000527.5:c.2514T>A MANE Select	NP_000518.1:p.Ile838=
NM_001195798.2:c.2514T>A	NP_001182727.1:p.Ile838=
NM_001195799.2:c.2391T>A	NP_001182728.1:p.Ile797=
NM_001195800.2:c.2010T>A	NP_001182729.1:p.Ile670=
NM_001195803.2:c.1980T>A	NP_001182732.1:p.Ile660=