Canonical Allele Identifier: CA037362

Gene: LDLR

Linked Data

• ClinVar Variation Id: 226380
• ClinVar RCV Id: RCV000211621 ; RCV001090454 ; RCV001188072 ; RCV002408919 ; RCV004017507
• dbSNP Id: rs754536745
• ExAC: 19:11230820 G / A
• gnomAD v2: 19-11230820-G-A
• gnomAD v3: 19-11120144-G-A
• gnomAD v4: 19-11120144-G-A
• MyVariant Identifiers: chr19:g.11230820G>A (hg19) ; chr19:g.11120144G>A (hg38)
• PubMed: PMID:15823288 ; PMID:16250003 ; PMID:19318025

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120144G>A , CM000681.2:g.11120144G>A	GRCh38
NC_000019.9:g.11230820G>A , CM000681.1:g.11230820G>A	GRCh37
NC_000019.8:g.11091820G>A	NCBI36
NG_009060.1:g.35764G>A , LRG_274:g.35764G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2156G>A	ENSP00000252444.6:p.Arg719His
ENST00000559340.2:c.1758G>A	ENSP00000453696.2:p.Pro586=
ENST00000560467.2:c.1778G>A	ENSP00000453513.2:p.Arg593His
ENST00000558518.6:c.1898G>A MANE Select	ENSP00000454071.1:p.Arg633His
ENST00000252444.9:c.2152G>A
ENST00000455727.6:c.1394G>A	ENSP00000397829.2:p.Arg465His
ENST00000535915.5:c.1775G>A	ENSP00000440520.1:p.Arg592His
ENST00000545707.5:c.1517G>A	ENSP00000437639.1:p.Arg506His
ENST00000557933.5:c.1898G>A	ENSP00000453557.1:p.Arg633His
ENST00000558013.5:c.1898G>A	ENSP00000453346.1:p.Arg633His
ENST00000558518.5:c.1898G>A	ENSP00000454071.1:p.Arg633His
ENST00000559340.1:c.479G>A
NM_000527.4:c.1898G>A , LRG_274t1:c.1898G>A	NP_000518.1:p.Arg633His
NM_001195798.1:c.1898G>A	NP_001182727.1:p.Arg633His
NM_001195799.1:c.1775G>A	NP_001182728.1:p.Arg592His
NM_001195800.1:c.1394G>A	NP_001182729.1:p.Arg465His
NM_001195803.1:c.1517G>A	NP_001182732.1:p.Arg506His
XM_011528010.1:c.1898G>A	XP_011526312.1:p.Arg633His
XM_011528011.1:c.1517G>A	XP_011526313.1:p.Arg506His
XR_244074.2:n.1908G>A
XM_011528010.2:c.1898G>A	XP_011526312.1:p.Arg633His
XR_001753685.2:n.2015G>A
XR_001753686.2:n.1875G>A
NM_000527.5:c.1898G>A MANE Select	NP_000518.1:p.Arg633His
NM_001195798.2:c.1898G>A	NP_001182727.1:p.Arg633His
NM_001195799.2:c.1775G>A	NP_001182728.1:p.Arg592His
NM_001195800.2:c.1394G>A	NP_001182729.1:p.Arg465His
NM_001195803.2:c.1517G>A	NP_001182732.1:p.Arg506His