Canonical Allele Identifier: CA119663

Gene: LEPR

Linked Data

• ClinVar Variation Id: 8521
• ClinVar RCV Id: RCV000009047 ; RCV000281795 ; RCV000348520 ; RCV000518727 ; RCV001668124
• dbSNP Id: rs1137101
• ExAC: 1:66058513 A / G
• gnomAD v2: 1-66058513-A-G
• gnomAD v3: 1-65592830-A-G
• gnomAD v4: 1-65592830-A-G
• MyVariant Identifiers: chr1:g.66058513A>G (hg19) ; chr1:g.65592830A>G (hg38)
• PubMed: PMID:8666155 ; PMID:11354636 ; PMID:11443193 ; PMID:17785359 ; PMID:21393862 ; PMID:22331430

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.65592830A>G , CM000663.2:g.65592830A>G	GRCh38
NC_000001.10:g.66058513A>G , CM000663.1:g.66058513A>G	GRCh37
NC_000001.9:g.65831101A>G	NCBI36
NG_015831.2:g.177266A>G , LRG_283:g.177266A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000349533.11:c.668A>G MANE Select	ENSP00000330393.7:p.Gln223Arg
ENST00000344610.12:c.668A>G	ENSP00000340884.8:p.Gln223Arg
ENST00000349533.10:c.668A>G	ENSP00000330393.6:p.Gln223Arg
ENST00000371058.1:c.668A>G	ENSP00000360097.1:p.Gln223Arg
ENST00000371059.7:c.668A>G	ENSP00000360098.3:p.Gln223Arg
ENST00000371060.7:c.668A>G	ENSP00000360099.3:p.Gln223Arg
ENST00000406510.7:c.-127+20381A>G	ENSP00000384025.3:n.-127+20381A>G
ENST00000462765.5:n.818A>G
ENST00000616738.4:c.668A>G	ENSP00000483390.1:p.Gln223Arg
NM_001003679.3:c.668A>G , LRG_283t1:c.668A>G	NP_001003679.1:p.Gln223Arg
NM_001003680.3:c.668A>G , LRG_283t2:c.668A>G	NP_001003680.1:p.Gln223Arg
NM_001198687.1:c.668A>G	NP_001185616.1:p.Gln223Arg
NM_001198688.1:c.668A>G , LRG_283t4:c.668A>G	NP_001185617.1:p.Gln223Arg
NM_001198689.1:c.668A>G	NP_001185618.1:p.Gln223Arg
NM_002303.5:c.668A>G , LRG_283t3:c.668A>G	NP_002294.2:p.Gln223Arg
NM_001198687.2:c.668A>G	NP_001185616.1:p.Gln223Arg
NM_002303.6:c.668A>G MANE Select	NP_002294.2:p.Gln223Arg
NM_001198689.2:c.668A>G	NP_001185618.1:p.Gln223Arg