Canonical Allele Identifier: CA404085373

Gene: LDLR

Linked Data

• COSMIC: COSM5588164
• MyVariant Identifiers: chr19:g.11224117G>A (hg19) ; chr19:g.11113441G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113441G>A , CM000681.2:g.11113441G>A	GRCh38
NC_000019.9:g.11224117G>A , CM000681.1:g.11224117G>A	GRCh37
NC_000019.8:g.11085117G>A	NCBI36
NG_009060.1:g.29061G>A , LRG_274:g.29061G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1608G>A	ENSP00000252444.6:p.Met536Ile
ENST00000559340.2:c.1350G>A	ENSP00000453696.2:p.Met450Ile
ENST00000560467.2:c.1230G>A	ENSP00000453513.2:p.Met410Ile
ENST00000558518.6:c.1350G>A MANE Select	ENSP00000454071.1:p.Met450Ile
ENST00000252444.9:c.1604G>A
ENST00000455727.6:c.846G>A	ENSP00000397829.2:p.Met282Ile
ENST00000535915.5:c.1227G>A	ENSP00000440520.1:p.Met409Ile
ENST00000545707.5:c.969G>A	ENSP00000437639.1:p.Met323Ile
ENST00000557933.5:c.1350G>A	ENSP00000453557.1:p.Met450Ile
ENST00000558013.5:c.1350G>A	ENSP00000453346.1:p.Met450Ile
ENST00000558518.5:c.1350G>A	ENSP00000454071.1:p.Met450Ile
ENST00000559340.1:c.71G>A
ENST00000560173.1:n.349G>A
ENST00000560467.1:c.830G>A
NM_000527.4:c.1350G>A , LRG_274t1:c.1350G>A	NP_000518.1:p.Met450Ile
NM_001195798.1:c.1350G>A	NP_001182727.1:p.Met450Ile
NM_001195799.1:c.1227G>A	NP_001182728.1:p.Met409Ile
NM_001195800.1:c.846G>A	NP_001182729.1:p.Met282Ile
NM_001195803.1:c.969G>A	NP_001182732.1:p.Met323Ile
XM_011528010.1:c.1350G>A	XP_011526312.1:p.Met450Ile
XM_011528011.1:c.969G>A	XP_011526313.1:p.Met323Ile
XR_244074.2:n.1500G>A
XM_011528010.2:c.1350G>A	XP_011526312.1:p.Met450Ile
XR_001753685.2:n.1467G>A
XR_001753686.2:n.1467G>A
NM_000527.5:c.1350G>A MANE Select	NP_000518.1:p.Met450Ile
NM_001195798.2:c.1350G>A	NP_001182727.1:p.Met450Ile
NM_001195799.2:c.1227G>A	NP_001182728.1:p.Met409Ile
NM_001195800.2:c.846G>A	NP_001182729.1:p.Met282Ile
NM_001195803.2:c.969G>A	NP_001182732.1:p.Met323Ile