Canonical Allele Identifier: CA894288

Gene: LEPR LEPROT

Linked Data

• ClinVar Variation Id: 297983
• ClinVar RCV Id: RCV000311543 ; RCV000350019
• dbSNP Id: rs189950527
• ExAC: 1:65886400 C / T
• gnomAD v2: 1-65886400-C-T
• gnomAD v3: 1-65420717-C-T
• gnomAD v4: 1-65420717-C-T
• MyVariant Identifiers: chr1:g.65886400C>T (hg19) ; chr1:g.65420717C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.65420717C>T , CM000663.2:g.65420717C>T	GRCh38
NC_000001.10:g.65886400C>T , CM000663.1:g.65886400C>T	GRCh37
NC_000001.9:g.65658988C>T	NCBI36
NG_015831.2:g.5153C>T , LRG_283:g.5153C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349533.11:c.-120C>T (LEPR) MANE Select	ENSP00000330393.7:n.-120C>T
ENST00000371065.9:c.-8C>T (LEPROT) MANE Select	ENSP00000360104.4:n.-8C>T
ENST00000349533.10:c.-120C>T (LEPR)	ENSP00000330393.6:n.-120C>T
ENST00000371059.7:c.-120C>T (LEPR)	ENSP00000360098.3:n.-120C>T
ENST00000371060.7:c.-120C>T (LEPR)	ENSP00000360099.3:n.-120C>T
ENST00000371065.8:c.-8C>T (LEPROT)	ENSP00000360104.4:n.-8C>T
ENST00000475108.5:n.131C>T (LEPROT)
ENST00000484243.1:n.8C>T (LEPROT)
ENST00000488747.5:n.10C>T (LEPROT)
ENST00000497874.5:n.50C>T (LEPROT)
ENST00000613538.1:c.-113C>T (LEPROT)	ENSP00000483521.1:n.-113C>T
NM_001003679.3:c.-120C>T , LRG_283t1:c.-120C>T (LEPR)	NP_001003679.1:n.-120C>T
NM_001003680.3:c.-120C>T , LRG_283t2:c.-120C>T (LEPR)	NP_001003680.1:n.-120C>T
NM_001198681.1:c.-113C>T (LEPROT)	NP_001185610.1:n.-113C>T
NM_001198683.1:c.-8C>T (LEPROT)	NP_001185612.1:n.-8C>T
NM_002303.5:c.-120C>T , LRG_283t3:c.-120C>T (LEPR)	NP_002294.2:n.-120C>T
NM_017526.4:c.-8C>T (LEPROT)	NP_059996.1:n.-8C>T
NM_017526.5:c.-8C>T (LEPROT) MANE Select	NP_059996.1:n.-8C>T
NM_001198683.2:c.-8C>T (LEPROT)	NP_001185612.1:n.-8C>T
NM_002303.6:c.-120C>T (LEPR) MANE Select	NP_002294.2:n.-120C>T
NM_001198681.2:c.-113C>T (LEPROT)	NP_001185610.1:n.-113C>T