Canonical Allele Identifier: CA404094832

Gene: LDLR

Linked Data

• gnomAD v4: 19-11123200-G-A
• COSMIC: COSM3528472
• MyVariant Identifiers: chr19:g.11233876G>A (hg19) ; chr19:g.11123200G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11123200G>A , CM000681.2:g.11123200G>A	GRCh38
NC_000019.9:g.11233876G>A , CM000681.1:g.11233876G>A	GRCh37
NC_000019.8:g.11094876G>A	NCBI36
NG_009060.1:g.38820G>A , LRG_274:g.38820G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2425G>A	ENSP00000252444.6:p.Glu809Lys
ENST00000559340.2:c.*236G>A	ENSP00000453696.2:n.*236G>A
ENST00000560467.2:c.2047G>A	ENSP00000453513.2:p.Glu683Lys
ENST00000558518.6:c.2167G>A MANE Select	ENSP00000454071.1:p.Glu723Lys
ENST00000252444.9:c.2421G>A
ENST00000455727.6:c.1663G>A	ENSP00000397829.2:p.Glu555Lys
ENST00000535915.5:c.2044G>A	ENSP00000440520.1:p.Glu682Lys
ENST00000545707.5:c.1633G>A	ENSP00000437639.1:p.Glu545Lys
ENST00000557933.5:c.2167G>A	ENSP00000453557.1:p.Glu723Lys
ENST00000558013.5:c.2167G>A	ENSP00000453346.1:p.Glu723Lys
ENST00000558518.5:c.2167G>A	ENSP00000454071.1:p.Glu723Lys
NM_000527.4:c.2167G>A , LRG_274t1:c.2167G>A	NP_000518.1:p.Glu723Lys
NM_001195798.1:c.2167G>A	NP_001182727.1:p.Glu723Lys
NM_001195799.1:c.2044G>A	NP_001182728.1:p.Glu682Lys
NM_001195800.1:c.1663G>A	NP_001182729.1:p.Glu555Lys
NM_001195803.1:c.1633G>A	NP_001182732.1:p.Glu545Lys
XM_011528010.1:c.2167G>A	XP_011526312.1:p.Glu723Lys
XM_011528011.1:c.1786G>A	XP_011526313.1:p.Glu596Lys
XR_244074.2:n.2177G>A
XM_011528010.2:c.2167G>A	XP_011526312.1:p.Glu723Lys
XR_001753685.2:n.2501G>A
XR_001753686.2:n.2144G>A
NM_000527.5:c.2167G>A MANE Select	NP_000518.1:p.Glu723Lys
NM_001195798.2:c.2167G>A	NP_001182727.1:p.Glu723Lys
NM_001195799.2:c.2044G>A	NP_001182728.1:p.Glu682Lys
NM_001195800.2:c.1663G>A	NP_001182729.1:p.Glu555Lys
NM_001195803.2:c.1633G>A	NP_001182732.1:p.Glu545Lys