Canonical Allele Identifier: CA340673080

Gene: LEPR

Linked Data

• gnomAD v4: 1-65570764-T-G
• MyVariant Identifiers: chr1:g.66036447T>G (hg19) ; chr1:g.65570764T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.65570764T>G , CM000663.2:g.65570764T>G	GRCh38
NC_000001.10:g.66036447T>G , CM000663.1:g.66036447T>G	GRCh37
NC_000001.9:g.65809035T>G	NCBI36
NG_015831.2:g.155200T>G , LRG_283:g.155200T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000349533.11:c.332T>G MANE Select	ENSP00000330393.7:p.Phe111Cys
ENST00000344610.12:c.332T>G	ENSP00000340884.8:p.Phe111Cys
ENST00000349533.10:c.332T>G	ENSP00000330393.6:p.Phe111Cys
ENST00000371058.1:c.332T>G	ENSP00000360097.1:p.Phe111Cys
ENST00000371059.7:c.332T>G	ENSP00000360098.3:p.Phe111Cys
ENST00000371060.7:c.332T>G	ENSP00000360099.3:p.Phe111Cys
ENST00000406510.7:c.-289T>G	ENSP00000384025.3:n.-289T>G
ENST00000462765.5:n.482T>G
ENST00000616738.4:c.332T>G	ENSP00000483390.1:p.Phe111Cys
NM_001003679.3:c.332T>G , LRG_283t1:c.332T>G	NP_001003679.1:p.Phe111Cys
NM_001003680.3:c.332T>G , LRG_283t2:c.332T>G	NP_001003680.1:p.Phe111Cys
NM_001198687.1:c.332T>G	NP_001185616.1:p.Phe111Cys
NM_001198688.1:c.332T>G , LRG_283t4:c.332T>G	NP_001185617.1:p.Phe111Cys
NM_001198689.1:c.332T>G	NP_001185618.1:p.Phe111Cys
NM_002303.5:c.332T>G , LRG_283t3:c.332T>G	NP_002294.2:p.Phe111Cys
NM_001198687.2:c.332T>G	NP_001185616.1:p.Phe111Cys
NM_002303.6:c.332T>G MANE Select	NP_002294.2:p.Phe111Cys
NM_001198689.2:c.332T>G	NP_001185618.1:p.Phe111Cys