Canonical Allele Identifier: CA16617181

Gene: LEPR

Linked Data

• ClinVar Variation Id: 421140
• ClinVar RCV Id: RCV000479260
• dbSNP Id: rs945135468
• gnomAD v3: 1-65570525-G-A
• gnomAD v4: 1-65570525-G-A
• MyVariant Identifiers: chr1:g.66036208G>A (hg19) ; chr1:g.65570525G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.65570525G>A , CM000663.2:g.65570525G>A	GRCh38
NC_000001.10:g.66036208G>A , CM000663.1:g.66036208G>A	GRCh37
NC_000001.9:g.65808796G>A	NCBI36
NG_015831.2:g.154961G>A , LRG_283:g.154961G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349533.11:c.93G>A MANE Select	ENSP00000330393.7:p.Trp31Ter
ENST00000344610.12:c.93G>A	ENSP00000340884.8:p.Trp31Ter
ENST00000349533.10:c.93G>A	ENSP00000330393.6:p.Trp31Ter
ENST00000371058.1:c.93G>A	ENSP00000360097.1:p.Trp31Ter
ENST00000371059.7:c.93G>A	ENSP00000360098.3:p.Trp31Ter
ENST00000371060.7:c.93G>A	ENSP00000360099.3:p.Trp31Ter
ENST00000406510.7:c.-528G>A	ENSP00000384025.3:n.-528G>A
ENST00000462765.5:n.243G>A
ENST00000616738.4:c.93G>A	ENSP00000483390.1:p.Trp31Ter
NM_001003679.3:c.93G>A , LRG_283t1:c.93G>A	NP_001003679.1:p.Trp31Ter
NM_001003680.3:c.93G>A , LRG_283t2:c.93G>A	NP_001003680.1:p.Trp31Ter
NM_001198687.1:c.93G>A	NP_001185616.1:p.Trp31Ter
NM_001198688.1:c.93G>A , LRG_283t4:c.93G>A	NP_001185617.1:p.Trp31Ter
NM_001198689.1:c.93G>A	NP_001185618.1:p.Trp31Ter
NM_002303.5:c.93G>A , LRG_283t3:c.93G>A	NP_002294.2:p.Trp31Ter
NM_001198687.2:c.93G>A	NP_001185616.1:p.Trp31Ter
NM_002303.6:c.93G>A MANE Select	NP_002294.2:p.Trp31Ter
NM_001198689.2:c.93G>A	NP_001185618.1:p.Trp31Ter