Canonical Allele Identifier: CA894460

Gene: LEPR

Linked Data

• ClinVar Variation Id: 2632958
• ClinVar RCV Id: RCV004528741
• dbSNP Id: rs778003419
• ExAC: 1:66036191 T / C
• gnomAD v2: 1-66036191-T-C
• gnomAD v3: 1-65570508-T-C
• gnomAD v4: 1-65570508-T-C
• MyVariant Identifiers: chr1:g.66036191T>C (hg19) ; chr1:g.65570508T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.65570508T>C , CM000663.2:g.65570508T>C	GRCh38
NC_000001.10:g.66036191T>C , CM000663.1:g.66036191T>C	GRCh37
NC_000001.9:g.65808779T>C	NCBI36
NG_015831.2:g.154944T>C , LRG_283:g.154944T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349533.11:c.76T>C MANE Select	ENSP00000330393.7:p.Tyr26His
ENST00000344610.12:c.76T>C	ENSP00000340884.8:p.Tyr26His
ENST00000349533.10:c.76T>C	ENSP00000330393.6:p.Tyr26His
ENST00000371058.1:c.76T>C	ENSP00000360097.1:p.Tyr26His
ENST00000371059.7:c.76T>C	ENSP00000360098.3:p.Tyr26His
ENST00000371060.7:c.76T>C	ENSP00000360099.3:p.Tyr26His
ENST00000406510.7:c.-545T>C	ENSP00000384025.3:n.-545T>C
ENST00000462765.5:n.226T>C
ENST00000616738.4:c.76T>C	ENSP00000483390.1:p.Tyr26His
NM_001003679.3:c.76T>C , LRG_283t1:c.76T>C	NP_001003679.1:p.Tyr26His
NM_001003680.3:c.76T>C , LRG_283t2:c.76T>C	NP_001003680.1:p.Tyr26His
NM_001198687.1:c.76T>C	NP_001185616.1:p.Tyr26His
NM_001198688.1:c.76T>C , LRG_283t4:c.76T>C	NP_001185617.1:p.Tyr26His
NM_001198689.1:c.76T>C	NP_001185618.1:p.Tyr26His
NM_002303.5:c.76T>C , LRG_283t3:c.76T>C	NP_002294.2:p.Tyr26His
NM_001198687.2:c.76T>C	NP_001185616.1:p.Tyr26His
NM_002303.6:c.76T>C MANE Select	NP_002294.2:p.Tyr26His
NM_001198689.2:c.76T>C	NP_001185618.1:p.Tyr26His