Canonical Allele Identifier: CA10625211

Gene: LEP

Linked Data

• ClinVar Variation Id: 358834
• ClinVar RCV Id: RCV000327260 ; RCV000365834
• dbSNP Id: rs144195028
• gnomAD v2: 7-127896076-A-G
• gnomAD v3: 7-128256023-A-G
• gnomAD v4: 7-128256023-A-G
• MyVariant Identifiers: chr7:g.127896076A>G (hg19) ; chr7:g.128256023A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128256023A>G , CM000669.2:g.128256023A>G	GRCh38
NC_000007.13:g.127896076A>G , CM000669.1:g.127896076A>G	GRCh37
NC_000007.12:g.127683312A>G	NCBI36
NG_007450.1:g.19746A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308868.5:c.*1260A>G MANE Select	ENSP00000312652.4:n.*1260A>G
ENST00000308868.4:c.*1260A>G	ENSP00000312652.4:n.*1260A>G
NM_000230.2:c.*1260A>G	NP_000221.1:n.*1260A>G
XM_005250340.3:c.*1260A>G	XP_005250397.1:n.*1260A>G
XM_005250340.5:c.*1260A>G	XP_005250397.1:n.*1260A>G
NM_000230.3:c.*1260A>G MANE Select	NP_000221.1:n.*1260A>G