Canonical Allele Identifier: CA10585201

Gene: LDLR

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11107506A>G , CM000681.2:g.11107506A>G	GRCh38
NC_000019.9:g.11218182A>G , CM000681.1:g.11218182A>G	GRCh37
NC_000019.8:g.11079182A>G	NCBI36
NG_009060.1:g.23126A>G , LRG_274:g.23126A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1190A>G	ENSP00000252444.6:p.Lys397Arg
ENST00000559340.2:c.932A>G	ENSP00000453696.2:p.Lys311Arg
ENST00000560467.2:c.932A>G	ENSP00000453513.2:p.Lys311Arg
ENST00000558518.6:c.932A>G MANE Select	ENSP00000454071.1:p.Lys311Arg
ENST00000252444.9:c.1186A>G
ENST00000455727.6:c.428A>G	ENSP00000397829.2:p.Lys143Arg
ENST00000535915.5:c.809A>G	ENSP00000440520.1:p.Lys270Arg
ENST00000545707.5:c.551A>G	ENSP00000437639.1:p.Lys184Arg
ENST00000557933.5:c.932A>G	ENSP00000453557.1:p.Lys311Arg
ENST00000558013.5:c.932A>G	ENSP00000453346.1:p.Lys311Arg
ENST00000558518.5:c.932A>G	ENSP00000454071.1:p.Lys311Arg
ENST00000558528.1:n.447A>G
ENST00000560467.1:c.532A>G
NM_000527.4:c.932A>G , LRG_274t1:c.932A>G	NP_000518.1:p.Lys311Arg
NM_001195798.1:c.932A>G	NP_001182727.1:p.Lys311Arg
NM_001195799.1:c.809A>G	NP_001182728.1:p.Lys270Arg
NM_001195800.1:c.428A>G	NP_001182729.1:p.Lys143Arg
NM_001195803.1:c.551A>G	NP_001182732.1:p.Lys184Arg
XM_011528010.1:c.932A>G	XP_011526312.1:p.Lys311Arg
XM_011528011.1:c.551A>G	XP_011526313.1:p.Lys184Arg
XR_244074.2:n.1082A>G
XM_011528010.2:c.932A>G	XP_011526312.1:p.Lys311Arg
XR_001753685.2:n.1049A>G
XR_001753686.2:n.1049A>G
NM_000527.5:c.932A>G MANE Select	NP_000518.1:p.Lys311Arg
NM_001195798.2:c.932A>G	NP_001182727.1:p.Lys311Arg
NM_001195799.2:c.809A>G	NP_001182728.1:p.Lys270Arg
NM_001195800.2:c.428A>G	NP_001182729.1:p.Lys143Arg
NM_001195803.2:c.551A>G	NP_001182732.1:p.Lys184Arg