Canonical Allele Identifier: CA023448

Gene: LDLR

Linked Data

• ClinVar Variation Id: 183111
• ClinVar RCV Id: RCV000161983 ; RCV000237224 ; RCV001182459 ; RCV002381529 ; RCV003895079
• dbSNP Id: rs730882100
• ExAC: 19:11224061 C / G
• gnomAD v2: 19-11224061-C-G
• gnomAD v3: 19-11113385-C-G
• gnomAD v4: 19-11113385-C-G
• MyVariant Identifiers: chr19:g.11224061C>G (hg19) ; chr19:g.11113385C>G (hg38)
• PubMed: PMID:10090484 ; PMID:15199436 ; PMID:20045108 ; PMID:25647241

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113385C>G , CM000681.2:g.11113385C>G	GRCh38
NC_000019.9:g.11224061C>G , CM000681.1:g.11224061C>G	GRCh37
NC_000019.8:g.11085061C>G	NCBI36
NG_009060.1:g.29005C>G , LRG_274:g.29005C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1552C>G	ENSP00000252444.6:p.Leu518Val
ENST00000559340.2:c.1294C>G	ENSP00000453696.2:p.Leu432Val
ENST00000560467.2:c.1174C>G	ENSP00000453513.2:p.Leu392Val
ENST00000558518.6:c.1294C>G MANE Select	ENSP00000454071.1:p.Leu432Val
ENST00000252444.9:c.1548C>G
ENST00000455727.6:c.790C>G	ENSP00000397829.2:p.Leu264Val
ENST00000535915.5:c.1171C>G	ENSP00000440520.1:p.Leu391Val
ENST00000545707.5:c.913C>G	ENSP00000437639.1:p.Leu305Val
ENST00000557933.5:c.1294C>G	ENSP00000453557.1:p.Leu432Val
ENST00000558013.5:c.1294C>G	ENSP00000453346.1:p.Leu432Val
ENST00000558518.5:c.1294C>G	ENSP00000454071.1:p.Leu432Val
ENST00000559340.1:c.15C>G
ENST00000560173.1:n.293C>G
ENST00000560467.1:c.774C>G
NM_000527.4:c.1294C>G , LRG_274t1:c.1294C>G	NP_000518.1:p.Leu432Val
NM_001195798.1:c.1294C>G	NP_001182727.1:p.Leu432Val
NM_001195799.1:c.1171C>G	NP_001182728.1:p.Leu391Val
NM_001195800.1:c.790C>G	NP_001182729.1:p.Leu264Val
NM_001195803.1:c.913C>G	NP_001182732.1:p.Leu305Val
XM_011528010.1:c.1294C>G	XP_011526312.1:p.Leu432Val
XM_011528011.1:c.913C>G	XP_011526313.1:p.Leu305Val
XR_244074.2:n.1444C>G
XM_011528010.2:c.1294C>G	XP_011526312.1:p.Leu432Val
XR_001753685.2:n.1411C>G
XR_001753686.2:n.1411C>G
NM_000527.5:c.1294C>G MANE Select	NP_000518.1:p.Leu432Val
NM_001195798.2:c.1294C>G	NP_001182727.1:p.Leu432Val
NM_001195799.2:c.1171C>G	NP_001182728.1:p.Leu391Val
NM_001195800.2:c.790C>G	NP_001182729.1:p.Leu264Val
NM_001195803.2:c.913C>G	NP_001182732.1:p.Leu305Val