Canonical Allele Identifier: CA404095589

Gene: LDLR

Linked Data

• ClinVar Variation Id: 921549
• ClinVar RCV Id: RCV001180999
• dbSNP Id: rs748540948
• gnomAD v4: 19-11123306-G-A
• MyVariant Identifiers: chr19:g.11233982G>A (hg19) ; chr19:g.11123306G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11123306G>A , CM000681.2:g.11123306G>A	GRCh38
NC_000019.9:g.11233982G>A , CM000681.1:g.11233982G>A	GRCh37
NC_000019.8:g.11094982G>A	NCBI36
NG_009060.1:g.38926G>A , LRG_274:g.38926G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2531G>A	ENSP00000252444.6:p.Gly844Glu
ENST00000559340.2:c.*342G>A	ENSP00000453696.2:n.*342G>A
ENST00000560467.2:c.2153G>A	ENSP00000453513.2:p.Gly718Glu
ENST00000558518.6:c.2273G>A MANE Select	ENSP00000454071.1:p.Gly758Glu
ENST00000252444.9:c.2527G>A
ENST00000455727.6:c.1769G>A	ENSP00000397829.2:p.Gly590Glu
ENST00000535915.5:c.2150G>A	ENSP00000440520.1:p.Gly717Glu
ENST00000545707.5:c.1739G>A	ENSP00000437639.1:p.Gly580Glu
ENST00000557933.5:c.2273G>A	ENSP00000453557.1:p.Gly758Glu
ENST00000558013.5:c.2273G>A	ENSP00000453346.1:p.Gly758Glu
ENST00000558518.5:c.2273G>A	ENSP00000454071.1:p.Gly758Glu
NM_000527.4:c.2273G>A , LRG_274t1:c.2273G>A	NP_000518.1:p.Gly758Glu
NM_001195798.1:c.2273G>A	NP_001182727.1:p.Gly758Glu
NM_001195799.1:c.2150G>A	NP_001182728.1:p.Gly717Glu
NM_001195800.1:c.1769G>A	NP_001182729.1:p.Gly590Glu
NM_001195803.1:c.1739G>A	NP_001182732.1:p.Gly580Glu
XM_011528010.1:c.2273G>A	XP_011526312.1:p.Gly758Glu
XM_011528011.1:c.1892G>A	XP_011526313.1:p.Gly631Glu
XR_244074.2:n.2283G>A
XM_011528010.2:c.2273G>A	XP_011526312.1:p.Gly758Glu
XR_001753685.2:n.2607G>A
XR_001753686.2:n.2250G>A
NM_000527.5:c.2273G>A MANE Select	NP_000518.1:p.Gly758Glu
NM_001195798.2:c.2273G>A	NP_001182727.1:p.Gly758Glu
NM_001195799.2:c.2150G>A	NP_001182728.1:p.Gly717Glu
NM_001195800.2:c.1769G>A	NP_001182729.1:p.Gly590Glu
NM_001195803.2:c.1739G>A	NP_001182732.1:p.Gly580Glu