Canonical Allele Identifier: CA894897

Gene: LEPR

Linked Data

• dbSNP Id: rs746348410
• ExAC: 1:66075857 T / C
• gnomAD v2: 1-66075857-T-C
• gnomAD v4: 1-65610174-T-C
• MyVariant Identifiers: chr1:g.66075857T>C (hg19) ; chr1:g.65610174T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.65610174T>C , CM000663.2:g.65610174T>C	GRCh38
NC_000001.10:g.66075857T>C , CM000663.1:g.66075857T>C	GRCh37
NC_000001.9:g.65848445T>C	NCBI36
NG_015831.2:g.194610T>C , LRG_283:g.194610T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349533.11:c.1913-40T>C MANE Select	ENSP00000330393.7:n.1913-40T>C
ENST00000344610.12:c.1913-40T>C	ENSP00000340884.8:n.1913-40T>C
ENST00000349533.10:c.1913-40T>C	ENSP00000330393.6:n.1913-40T>C
ENST00000371058.1:c.1913-40T>C	ENSP00000360097.1:n.1913-40T>C
ENST00000371059.7:c.1913-40T>C	ENSP00000360098.3:n.1913-40T>C
ENST00000371060.7:c.1913-40T>C	ENSP00000360099.3:n.1913-40T>C
ENST00000406510.7:c.-126-26017T>C	ENSP00000384025.3:n.-126-26017T>C
ENST00000462765.5:n.2063-40T>C
ENST00000616738.4:c.1913-40T>C	ENSP00000483390.1:n.1913-40T>C
NM_001003679.3:c.1913-40T>C , LRG_283t1:c.1913-40T>C	NP_001003679.1:n.1913-40T>C
NM_001003680.3:c.1913-40T>C , LRG_283t2:c.1913-40T>C	NP_001003680.1:n.1913-40T>C
NM_001198687.1:c.1913-40T>C	NP_001185616.1:n.1913-40T>C
NM_001198688.1:c.1913-40T>C , LRG_283t4:c.1913-40T>C	NP_001185617.1:n.1913-40T>C
NM_001198689.1:c.1913-40T>C	NP_001185618.1:n.1913-40T>C
NM_002303.5:c.1913-40T>C , LRG_283t3:c.1913-40T>C	NP_002294.2:n.1913-40T>C
NM_001198687.2:c.1913-40T>C	NP_001185616.1:n.1913-40T>C
NM_002303.6:c.1913-40T>C MANE Select	NP_002294.2:n.1913-40T>C
NM_001198689.2:c.1913-40T>C	NP_001185618.1:n.1913-40T>C