Canonical Allele Identifier: CA10623196

Gene: LEP

Linked Data

• ClinVar Variation Id: 358829
• ClinVar RCV Id: RCV000294350 ; RCV000396676
• dbSNP Id: rs114834517
• gnomAD v2: 7-127895601-A-G
• gnomAD v3: 7-128255548-A-G
• gnomAD v4: 7-128255548-A-G
• MyVariant Identifiers: chr7:g.127895601A>G (hg19) ; chr7:g.128255548A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128255548A>G , CM000669.2:g.128255548A>G	GRCh38
NC_000007.13:g.127895601A>G , CM000669.1:g.127895601A>G	GRCh37
NC_000007.12:g.127682837A>G	NCBI36
NG_007450.1:g.19271A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308868.5:c.*785A>G MANE Select	ENSP00000312652.4:n.*785A>G
ENST00000308868.4:c.*785A>G	ENSP00000312652.4:n.*785A>G
NM_000230.2:c.*785A>G	NP_000221.1:n.*785A>G
XM_005250340.3:c.*785A>G	XP_005250397.1:n.*785A>G
XM_005250340.5:c.*785A>G	XP_005250397.1:n.*785A>G
NM_000230.3:c.*785A>G MANE Select	NP_000221.1:n.*785A>G