Canonical Allele Identifier: CA404086546

Gene: LDLR

Linked Data

• ClinVar Variation Id: 432366
• ClinVar RCV Id: RCV000498619 ; RCV001851374
• dbSNP Id: rs1555805507
• MyVariant Identifiers: chr19:g.11224392G>T (hg19) ; chr19:g.11113716G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113716G>T , CM000681.2:g.11113716G>T	GRCh38
NC_000019.9:g.11224392G>T , CM000681.1:g.11224392G>T	GRCh37
NC_000019.8:g.11085392G>T	NCBI36
NG_009060.1:g.29336G>T , LRG_274:g.29336G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1798G>T	ENSP00000252444.6:p.Glu600Ter
ENST00000559340.2:c.1540G>T	ENSP00000453696.2:p.Glu514Ter
ENST00000560467.2:c.1420G>T	ENSP00000453513.2:p.Glu474Ter
ENST00000558518.6:c.1540G>T MANE Select	ENSP00000454071.1:p.Glu514Ter
ENST00000252444.9:c.1794G>T
ENST00000455727.6:c.1036G>T	ENSP00000397829.2:p.Glu346Ter
ENST00000535915.5:c.1417G>T	ENSP00000440520.1:p.Glu473Ter
ENST00000545707.5:c.1159G>T	ENSP00000437639.1:p.Glu387Ter
ENST00000557933.5:c.1540G>T	ENSP00000453557.1:p.Glu514Ter
ENST00000558013.5:c.1540G>T	ENSP00000453346.1:p.Glu514Ter
ENST00000558518.5:c.1540G>T	ENSP00000454071.1:p.Glu514Ter
ENST00000559340.1:c.261G>T
NM_000527.4:c.1540G>T , LRG_274t1:c.1540G>T	NP_000518.1:p.Glu514Ter
NM_001195798.1:c.1540G>T	NP_001182727.1:p.Glu514Ter
NM_001195799.1:c.1417G>T	NP_001182728.1:p.Glu473Ter
NM_001195800.1:c.1036G>T	NP_001182729.1:p.Glu346Ter
NM_001195803.1:c.1159G>T	NP_001182732.1:p.Glu387Ter
XM_011528010.1:c.1540G>T	XP_011526312.1:p.Glu514Ter
XM_011528011.1:c.1159G>T	XP_011526313.1:p.Glu387Ter
XR_244074.2:n.1690G>T
XM_011528010.2:c.1540G>T	XP_011526312.1:p.Glu514Ter
XR_001753685.2:n.1657G>T
XR_001753686.2:n.1657G>T
NM_000527.5:c.1540G>T MANE Select	NP_000518.1:p.Glu514Ter
NM_001195798.2:c.1540G>T	NP_001182727.1:p.Glu514Ter
NM_001195799.2:c.1417G>T	NP_001182728.1:p.Glu473Ter
NM_001195800.2:c.1036G>T	NP_001182729.1:p.Glu346Ter
NM_001195803.2:c.1159G>T	NP_001182732.1:p.Glu387Ter