Canonical Allele Identifier: CA894323

Gene: LEPR LEPROT

Linked Data

• ClinVar Variation Id: 297984
• ClinVar RCV Id: RCV000315592 ; RCV000397005 ; RCV000953426
• dbSNP Id: rs13306523
• ExAC: 1:65890990 C / T
• gnomAD v2: 1-65890990-C-T
• gnomAD v3: 1-65425307-C-T
• gnomAD v4: 1-65425307-C-T
• MyVariant Identifiers: chr1:g.65890990C>T (hg19) ; chr1:g.65425307C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.65425307C>T , CM000663.2:g.65425307C>T	GRCh38
NC_000001.10:g.65890990C>T , CM000663.1:g.65890990C>T	GRCh37
NC_000001.9:g.65663578C>T	NCBI36
NG_015831.2:g.9743C>T , LRG_283:g.9743C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349533.11:c.-92C>T (LEPR) MANE Select	ENSP00000330393.7:n.-92C>T
ENST00000371065.9:c.21C>T (LEPROT) MANE Select	ENSP00000360104.4:p.Leu7=
ENST00000349533.10:c.-92C>T (LEPR)	ENSP00000330393.6:n.-92C>T
ENST00000371059.7:c.-92C>T (LEPR)	ENSP00000360098.3:n.-92C>T
ENST00000371060.7:c.-92C>T (LEPR)	ENSP00000360099.3:n.-92C>T
ENST00000371065.8:c.21C>T (LEPROT)	ENSP00000360104.4:p.Leu7=
ENST00000406510.7:c.-712C>T (LEPR)	ENSP00000384025.3:n.-712C>T
ENST00000475108.5:n.159C>T (LEPROT)
ENST00000484243.1:n.36C>T (LEPROT)
ENST00000488747.5:n.38C>T (LEPROT)
ENST00000497874.5:n.78C>T (LEPROT)
ENST00000613538.1:c.48C>T (LEPROT)	ENSP00000483521.1:p.Leu16=
NM_001003679.3:c.-92C>T , LRG_283t1:c.-92C>T (LEPR)	NP_001003679.1:n.-92C>T
NM_001003680.3:c.-92C>T , LRG_283t2:c.-92C>T (LEPR)	NP_001003680.1:n.-92C>T
NM_001198681.1:c.48C>T (LEPROT)	NP_001185610.1:p.Leu16=
NM_001198683.1:c.21C>T (LEPROT)	NP_001185612.1:p.Leu7=
NM_002303.5:c.-92C>T , LRG_283t3:c.-92C>T (LEPR)	NP_002294.2:n.-92C>T
NM_017526.4:c.21C>T (LEPROT)	NP_059996.1:p.Leu7=
NM_017526.5:c.21C>T (LEPROT) MANE Select	NP_059996.1:p.Leu7=
NM_001198683.2:c.21C>T (LEPROT)	NP_001185612.1:p.Leu7=
NM_002303.6:c.-92C>T (LEPR) MANE Select	NP_002294.2:n.-92C>T
NM_001198681.2:c.48C>T (LEPROT)	NP_001185610.1:p.Leu16=