Canonical Allele Identifier: CA418227726

Gene: LEPR

Linked Data

• gnomAD v4: 1-65622975-T-C
• MyVariant Identifiers: chr1:g.66088658T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.65622975T>C , CM000663.2:g.65622975T>C	GRCh38
NC_000001.10:g.66088658T>C , CM000663.1:g.66088658T>C	GRCh37
NC_000001.9:g.65861246T>C	NCBI36
NG_015831.2:g.207411T>C , LRG_283:g.207411T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349533.11:c.2667T>C MANE Select	ENSP00000330393.7:p.Phe889=
ENST00000344610.12:c.2667T>C	ENSP00000340884.8:p.Phe889=
ENST00000349533.10:c.2667T>C	ENSP00000330393.6:p.Phe889=
ENST00000371058.1:c.2667T>C	ENSP00000360097.1:p.Phe889=
ENST00000371059.7:c.2667T>C	ENSP00000360098.3:p.Phe889=
ENST00000371060.7:c.2667T>C	ENSP00000360099.3:p.Phe889=
ENST00000406510.7:c.-126-13216T>C	ENSP00000384025.3:n.-126-13216T>C
ENST00000471762.1:n.260T>C
ENST00000616738.4:c.2667T>C	ENSP00000483390.1:p.Phe889=
NM_001003679.3:c.2667T>C , LRG_283t1:c.2667T>C	NP_001003679.1:p.Phe889=
NM_001003680.3:c.2667T>C , LRG_283t2:c.2667T>C	NP_001003680.1:p.Phe889=
NM_001198687.1:c.2667T>C	NP_001185616.1:p.Phe889=
NM_001198688.1:c.2667T>C , LRG_283t4:c.2667T>C	NP_001185617.1:p.Phe889=
NM_001198689.1:c.2667T>C	NP_001185618.1:p.Phe889=
NM_002303.5:c.2667T>C , LRG_283t3:c.2667T>C	NP_002294.2:p.Phe889=
NM_001198687.2:c.2667T>C	NP_001185616.1:p.Phe889=
NM_002303.6:c.2667T>C MANE Select	NP_002294.2:p.Phe889=
NM_001198689.2:c.2667T>C	NP_001185618.1:p.Phe889=