Canonical Allele Identifier: CA404075595

Gene: LDLR

Linked Data

• ClinVar Variation Id: 923296
• ClinVar RCV Id: RCV001183871
• dbSNP Id: rs1173004910
• gnomAD v3: 19-11102712-A-G
• gnomAD v4: 19-11102712-A-G
• COSMIC: COSM1256394
• MyVariant Identifiers: chr19:g.11213388A>G (hg19) ; chr19:g.11102712A>G (hg38)
• ERepo: CA404075595/MONDO:0007750/013

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11102712A>G , CM000681.2:g.11102712A>G	GRCh38
NC_000019.9:g.11213388A>G , CM000681.1:g.11213388A>G	GRCh37
NC_000019.8:g.11074388A>G	NCBI36
NG_009060.1:g.18332A>G , LRG_274:g.18332A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.497A>G	ENSP00000252444.6:p.Asn166Ser
ENST00000559340.2:c.239A>G	ENSP00000453696.2:p.Asn80Ser
ENST00000560467.2:c.239A>G	ENSP00000453513.2:p.Asn80Ser
ENST00000558518.6:c.239A>G MANE Select	ENSP00000454071.1:p.Asn80Ser
ENST00000252444.9:c.493A>G
ENST00000455727.6:c.239A>G	ENSP00000397829.2:p.Asn80Ser
ENST00000535915.5:c.190+2367A>G	ENSP00000440520.1:n.190+2367A>G
ENST00000545707.5:c.239A>G	ENSP00000437639.1:p.Asn80Ser
ENST00000557933.5:c.239A>G	ENSP00000453557.1:p.Asn80Ser
ENST00000557958.1:n.325A>G
ENST00000558013.5:c.239A>G	ENSP00000453346.1:p.Asn80Ser
ENST00000558518.5:c.239A>G	ENSP00000454071.1:p.Asn80Ser
NM_000527.4:c.239A>G , LRG_274t1:c.239A>G	NP_000518.1:p.Asn80Ser
NM_001195798.1:c.239A>G	NP_001182727.1:p.Asn80Ser
NM_001195799.1:c.190+2367A>G	NP_001182728.1:n.190+2367A>G
NM_001195800.1:c.239A>G	NP_001182729.1:p.Asn80Ser
NM_001195803.1:c.239A>G	NP_001182732.1:p.Asn80Ser
XM_011528010.1:c.239A>G	XP_011526312.1:p.Asn80Ser
XM_011528011.1:c.239A>G	XP_011526313.1:p.Asn80Ser
XR_244074.2:n.389A>G
XM_011528010.2:c.239A>G	XP_011526312.1:p.Asn80Ser
XR_001753685.2:n.356A>G
XR_001753686.2:n.356A>G
NM_000527.5:c.239A>G MANE Select	NP_000518.1:p.Asn80Ser
NM_001195798.2:c.239A>G	NP_001182727.1:p.Asn80Ser
NM_001195799.2:c.190+2367A>G	NP_001182728.1:n.190+2367A>G
NM_001195800.2:c.239A>G	NP_001182729.1:p.Asn80Ser
NM_001195803.2:c.239A>G	NP_001182732.1:p.Asn80Ser