Canonical Allele Identifier: CA10623201

Gene: LEP

Linked Data

• ClinVar Variation Id: 358831
• ClinVar RCV Id: RCV000297748 ; RCV000355059
• dbSNP Id: rs138289049
• gnomAD v2: 7-127895826-C-A
• gnomAD v3: 7-128255773-C-A
• gnomAD v4: 7-128255773-C-A
• MyVariant Identifiers: chr7:g.127895826C>A (hg19) ; chr7:g.128255773C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128255773C>A , CM000669.2:g.128255773C>A	GRCh38
NC_000007.13:g.127895826C>A , CM000669.1:g.127895826C>A	GRCh37
NC_000007.12:g.127683062C>A	NCBI36
NG_007450.1:g.19496C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308868.5:c.*1010C>A MANE Select	ENSP00000312652.4:n.*1010C>A
ENST00000308868.4:c.*1010C>A	ENSP00000312652.4:n.*1010C>A
NM_000230.2:c.*1010C>A	NP_000221.1:n.*1010C>A
XM_005250340.3:c.*1010C>A	XP_005250397.1:n.*1010C>A
XM_005250340.5:c.*1010C>A	XP_005250397.1:n.*1010C>A
NM_000230.3:c.*1010C>A MANE Select	NP_000221.1:n.*1010C>A