Canonical Allele Identifier: CA023432

Gene: LDLR

Linked Data

• ClinVar Variation Id: 161267
• ClinVar RCV Id: RCV000238417 ; RCV000255176 ; RCV000586642
• dbSNP Id: rs146200173
• ExAC: 19:11223968 C / G
• gnomAD v2: 19-11223968-C-G
• gnomAD v3: 19-11113292-C-G
• gnomAD v4: 19-11113292-C-G
• MyVariant Identifiers: chr19:g.11223968C>G (hg19) ; chr19:g.11113292C>G (hg38)
• PubMed: PMID:9104431 ; PMID:21722902 ; PMID:23669246 ; PMID:23833242 ; PMID:25461735 ; PMID:25637381

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113292C>G , CM000681.2:g.11113292C>G	GRCh38
NC_000019.9:g.11223968C>G , CM000681.1:g.11223968C>G	GRCh37
NC_000019.8:g.11084968C>G	NCBI36
NG_009060.1:g.28912C>G , LRG_274:g.28912C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1459C>G	ENSP00000252444.6:p.Leu487Val
ENST00000559340.2:c.1201C>G	ENSP00000453696.2:p.Leu401Val
ENST00000560467.2:c.1081C>G	ENSP00000453513.2:p.Leu361Val
ENST00000558518.6:c.1201C>G MANE Select	ENSP00000454071.1:p.Leu401Val
ENST00000252444.9:c.1455C>G
ENST00000455727.6:c.697C>G	ENSP00000397829.2:p.Leu233Val
ENST00000535915.5:c.1078C>G	ENSP00000440520.1:p.Leu360Val
ENST00000545707.5:c.820C>G	ENSP00000437639.1:p.Leu274Val
ENST00000557933.5:c.1201C>G	ENSP00000453557.1:p.Leu401Val
ENST00000558013.5:c.1201C>G	ENSP00000453346.1:p.Leu401Val
ENST00000558518.5:c.1201C>G	ENSP00000454071.1:p.Leu401Val
ENST00000560173.1:n.200C>G
ENST00000560467.1:c.681C>G
NM_000527.4:c.1201C>G , LRG_274t1:c.1201C>G	NP_000518.1:p.Leu401Val
NM_001195798.1:c.1201C>G	NP_001182727.1:p.Leu401Val
NM_001195799.1:c.1078C>G	NP_001182728.1:p.Leu360Val
NM_001195800.1:c.697C>G	NP_001182729.1:p.Leu233Val
NM_001195803.1:c.820C>G	NP_001182732.1:p.Leu274Val
XM_011528010.1:c.1201C>G	XP_011526312.1:p.Leu401Val
XM_011528011.1:c.820C>G	XP_011526313.1:p.Leu274Val
XR_244074.2:n.1351C>G
XM_011528010.2:c.1201C>G	XP_011526312.1:p.Leu401Val
XR_001753685.2:n.1318C>G
XR_001753686.2:n.1318C>G
NM_000527.5:c.1201C>G MANE Select	NP_000518.1:p.Leu401Val
NM_001195798.2:c.1201C>G	NP_001182727.1:p.Leu401Val
NM_001195799.2:c.1078C>G	NP_001182728.1:p.Leu360Val
NM_001195800.2:c.697C>G	NP_001182729.1:p.Leu233Val
NM_001195803.2:c.820C>G	NP_001182732.1:p.Leu274Val