Canonical Allele Identifier: CA031209

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251601
• ClinVar RCV Id: RCV000238375
• dbSNP Id: rs777524402
• ExAC: 19:11221407 C / G
• gnomAD v2: 19-11221407-C-G
• gnomAD v3: 19-11110731-C-G
• gnomAD v4: 19-11110731-C-G
• MyVariant Identifiers: chr19:g.11221407C>G (hg19) ; chr19:g.11110731C>G (hg38)
• PubMed: PMID:22881376

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11110731C>G , CM000681.2:g.11110731C>G	GRCh38
NC_000019.9:g.11221407C>G , CM000681.1:g.11221407C>G	GRCh37
NC_000019.8:g.11082407C>G	NCBI36
NG_009060.1:g.26351C>G , LRG_274:g.26351C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1278C>G	ENSP00000252444.6:p.Cys426Trp
ENST00000559340.2:c.1020C>G	ENSP00000453696.2:p.Cys340Trp
ENST00000560467.2:c.941-783C>G	ENSP00000453513.2:n.941-783C>G
ENST00000558518.6:c.1020C>G MANE Select	ENSP00000454071.1:p.Cys340Trp
ENST00000252444.9:c.1274C>G
ENST00000455727.6:c.516C>G	ENSP00000397829.2:p.Cys172Trp
ENST00000535915.5:c.897C>G	ENSP00000440520.1:p.Cys299Trp
ENST00000545707.5:c.639C>G	ENSP00000437639.1:p.Cys213Trp
ENST00000557933.5:c.1020C>G	ENSP00000453557.1:p.Cys340Trp
ENST00000558013.5:c.1020C>G	ENSP00000453346.1:p.Cys340Trp
ENST00000558518.5:c.1020C>G	ENSP00000454071.1:p.Cys340Trp
ENST00000560173.1:n.19C>G
ENST00000560467.1:c.541-783C>G
NM_000527.4:c.1020C>G , LRG_274t1:c.1020C>G	NP_000518.1:p.Cys340Trp
NM_001195798.1:c.1020C>G	NP_001182727.1:p.Cys340Trp
NM_001195799.1:c.897C>G	NP_001182728.1:p.Cys299Trp
NM_001195800.1:c.516C>G	NP_001182729.1:p.Cys172Trp
NM_001195803.1:c.639C>G	NP_001182732.1:p.Cys213Trp
XM_011528010.1:c.1020C>G	XP_011526312.1:p.Cys340Trp
XM_011528011.1:c.639C>G	XP_011526313.1:p.Cys213Trp
XR_244074.2:n.1170C>G
XM_011528010.2:c.1020C>G	XP_011526312.1:p.Cys340Trp
XR_001753685.2:n.1137C>G
XR_001753686.2:n.1137C>G
NM_000527.5:c.1020C>G MANE Select	NP_000518.1:p.Cys340Trp
NM_001195798.2:c.1020C>G	NP_001182727.1:p.Cys340Trp
NM_001195799.2:c.897C>G	NP_001182728.1:p.Cys299Trp
NM_001195800.2:c.516C>G	NP_001182729.1:p.Cys172Trp
NM_001195803.2:c.639C>G	NP_001182732.1:p.Cys213Trp