Canonical Allele Identifier: CA034365

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251838
• ClinVar RCV Id: RCV000237250 ; RCV000780376 ; RCV001177032
• dbSNP Id: rs780316072
• ExAC: 19:11224281 G / A
• gnomAD v2: 19-11224281-G-A
• gnomAD v4: 19-11113605-G-A
• COSMIC: COSM261750
• MyVariant Identifiers: chr19:g.11224281G>A (hg19) ; chr19:g.11113605G>A (hg38)
• PubMed: PMID:16250003

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113605G>A , CM000681.2:g.11113605G>A	GRCh38
NC_000019.9:g.11224281G>A , CM000681.1:g.11224281G>A	GRCh37
NC_000019.8:g.11085281G>A	NCBI36
NG_009060.1:g.29225G>A , LRG_274:g.29225G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1687G>A	ENSP00000252444.6:p.Asp563Asn
ENST00000559340.2:c.1429G>A	ENSP00000453696.2:p.Asp477Asn
ENST00000560467.2:c.1309G>A	ENSP00000453513.2:p.Asp437Asn
ENST00000558518.6:c.1429G>A MANE Select	ENSP00000454071.1:p.Asp477Asn
ENST00000252444.9:c.1683G>A
ENST00000455727.6:c.925G>A	ENSP00000397829.2:p.Asp309Asn
ENST00000535915.5:c.1306G>A	ENSP00000440520.1:p.Asp436Asn
ENST00000545707.5:c.1048G>A	ENSP00000437639.1:p.Asp350Asn
ENST00000557933.5:c.1429G>A	ENSP00000453557.1:p.Asp477Asn
ENST00000558013.5:c.1429G>A	ENSP00000453346.1:p.Asp477Asn
ENST00000558518.5:c.1429G>A	ENSP00000454071.1:p.Asp477Asn
ENST00000559340.1:c.150G>A
ENST00000560467.1:c.909G>A
NM_000527.4:c.1429G>A , LRG_274t1:c.1429G>A	NP_000518.1:p.Asp477Asn
NM_001195798.1:c.1429G>A	NP_001182727.1:p.Asp477Asn
NM_001195799.1:c.1306G>A	NP_001182728.1:p.Asp436Asn
NM_001195800.1:c.925G>A	NP_001182729.1:p.Asp309Asn
NM_001195803.1:c.1048G>A	NP_001182732.1:p.Asp350Asn
XM_011528010.1:c.1429G>A	XP_011526312.1:p.Asp477Asn
XM_011528011.1:c.1048G>A	XP_011526313.1:p.Asp350Asn
XR_244074.2:n.1579G>A
XM_011528010.2:c.1429G>A	XP_011526312.1:p.Asp477Asn
XR_001753685.2:n.1546G>A
XR_001753686.2:n.1546G>A
NM_000527.5:c.1429G>A MANE Select	NP_000518.1:p.Asp477Asn
NM_001195798.2:c.1429G>A	NP_001182727.1:p.Asp477Asn
NM_001195799.2:c.1306G>A	NP_001182728.1:p.Asp436Asn
NM_001195800.2:c.925G>A	NP_001182729.1:p.Asp309Asn
NM_001195803.2:c.1048G>A	NP_001182732.1:p.Asp350Asn