Canonical Allele Identifier: CA023475

Gene: LDLR

Linked Data

• ClinVar Variation Id: 183113
• ClinVar RCV Id: RCV000161985 ; RCV000237193 ; RCV001804888 ; RCV003235078
• dbSNP Id: rs193922568
• ExAC: 19:11224233 G / T
• gnomAD v2: 19-11224233-G-T
• gnomAD v3: 19-11113557-G-T
• gnomAD v4: 19-11113557-G-T
• MyVariant Identifiers: chr19:g.11224233G>T (hg19) ; chr19:g.11113557G>T (hg38)
• PubMed: PMID:16465405 ; PMID:23815734 ; PMID:25647241

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113557G>T , CM000681.2:g.11113557G>T	GRCh38
NC_000019.9:g.11224233G>T , CM000681.1:g.11224233G>T	GRCh37
NC_000019.8:g.11085233G>T	NCBI36
NG_009060.1:g.29177G>T , LRG_274:g.29177G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1639G>T	ENSP00000252444.6:p.Gly547Cys
ENST00000559340.2:c.1381G>T	ENSP00000453696.2:p.Gly461Cys
ENST00000560467.2:c.1261G>T	ENSP00000453513.2:p.Gly421Cys
ENST00000558518.6:c.1381G>T MANE Select	ENSP00000454071.1:p.Gly461Cys
ENST00000252444.9:c.1635G>T
ENST00000455727.6:c.877G>T	ENSP00000397829.2:p.Gly293Cys
ENST00000535915.5:c.1258G>T	ENSP00000440520.1:p.Gly420Cys
ENST00000545707.5:c.1000G>T	ENSP00000437639.1:p.Gly334Cys
ENST00000557933.5:c.1381G>T	ENSP00000453557.1:p.Gly461Cys
ENST00000558013.5:c.1381G>T	ENSP00000453346.1:p.Gly461Cys
ENST00000558518.5:c.1381G>T	ENSP00000454071.1:p.Gly461Cys
ENST00000559340.1:c.102G>T
ENST00000560467.1:c.861G>T
NM_000527.4:c.1381G>T , LRG_274t1:c.1381G>T	NP_000518.1:p.Gly461Cys
NM_001195798.1:c.1381G>T	NP_001182727.1:p.Gly461Cys
NM_001195799.1:c.1258G>T	NP_001182728.1:p.Gly420Cys
NM_001195800.1:c.877G>T	NP_001182729.1:p.Gly293Cys
NM_001195803.1:c.1000G>T	NP_001182732.1:p.Gly334Cys
XM_011528010.1:c.1381G>T	XP_011526312.1:p.Gly461Cys
XM_011528011.1:c.1000G>T	XP_011526313.1:p.Gly334Cys
XR_244074.2:n.1531G>T
XM_011528010.2:c.1381G>T	XP_011526312.1:p.Gly461Cys
XR_001753685.2:n.1498G>T
XR_001753686.2:n.1498G>T
NM_000527.5:c.1381G>T MANE Select	NP_000518.1:p.Gly461Cys
NM_001195798.2:c.1381G>T	NP_001182727.1:p.Gly461Cys
NM_001195799.2:c.1258G>T	NP_001182728.1:p.Gly420Cys
NM_001195800.2:c.877G>T	NP_001182729.1:p.Gly293Cys
NM_001195803.2:c.1000G>T	NP_001182732.1:p.Gly334Cys