Canonical Allele Identifier: CA035639

Gene: LDLR

Linked Data

• ClinVar Variation Id: 224616
• ClinVar RCV Id: RCV000210237 ; RCV001201346 ; RCV001800536 ; RCV002408910
• dbSNP Id: rs758194385
• ExAC: 19:11226874 A / G
• gnomAD v2: 19-11226874-A-G
• gnomAD v3: 19-11116198-A-G
• gnomAD v4: 19-11116198-A-G
• MyVariant Identifiers: chr19:g.11226874A>G (hg19) ; chr19:g.11116198A>G (hg38)
• PubMed: PMID:9654205 ; PMID:20145306 ; PMID:20538126 ; PMID:23375686 ; PMID:28145427

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116198A>G , CM000681.2:g.11116198A>G	GRCh38
NC_000019.9:g.11226874A>G , CM000681.1:g.11226874A>G	GRCh37
NC_000019.8:g.11087874A>G	NCBI36
NG_009060.1:g.31818A>G , LRG_274:g.31818A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1949A>G	ENSP00000252444.6:p.Asn650Ser
ENST00000559340.2:c.1691A>G	ENSP00000453696.2:p.Asn564Ser
ENST00000560467.2:c.1571A>G	ENSP00000453513.2:p.Asn524Ser
ENST00000558518.6:c.1691A>G MANE Select	ENSP00000454071.1:p.Asn564Ser
ENST00000252444.9:c.1945A>G
ENST00000455727.6:c.1187A>G	ENSP00000397829.2:p.Asn396Ser
ENST00000535915.5:c.1568A>G	ENSP00000440520.1:p.Asn523Ser
ENST00000545707.5:c.1310A>G	ENSP00000437639.1:p.Asn437Ser
ENST00000557933.5:c.1691A>G	ENSP00000453557.1:p.Asn564Ser
ENST00000558013.5:c.1691A>G	ENSP00000453346.1:p.Asn564Ser
ENST00000558518.5:c.1691A>G	ENSP00000454071.1:p.Asn564Ser
ENST00000559340.1:c.412A>G
NM_000527.4:c.1691A>G , LRG_274t1:c.1691A>G	NP_000518.1:p.Asn564Ser
NM_001195798.1:c.1691A>G	NP_001182727.1:p.Asn564Ser
NM_001195799.1:c.1568A>G	NP_001182728.1:p.Asn523Ser
NM_001195800.1:c.1187A>G	NP_001182729.1:p.Asn396Ser
NM_001195803.1:c.1310A>G	NP_001182732.1:p.Asn437Ser
XM_011528010.1:c.1691A>G	XP_011526312.1:p.Asn564Ser
XM_011528011.1:c.1310A>G	XP_011526313.1:p.Asn437Ser
XR_244074.2:n.1841A>G
XM_011528010.2:c.1691A>G	XP_011526312.1:p.Asn564Ser
XR_001753685.2:n.1808A>G
XR_001753686.2:n.1808A>G
NM_000527.5:c.1691A>G MANE Select	NP_000518.1:p.Asn564Ser
NM_001195798.2:c.1691A>G	NP_001182727.1:p.Asn564Ser
NM_001195799.2:c.1568A>G	NP_001182728.1:p.Asn523Ser
NM_001195800.2:c.1187A>G	NP_001182729.1:p.Asn396Ser
NM_001195803.2:c.1310A>G	NP_001182732.1:p.Asn437Ser