Canonical Allele Identifier: CA4469685
Gene: LEP HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.128254539G>A
GRCh37 chr7:g.127894592G>A
Revel Score:
ENST00000308868 (MANE Select) 0.168
gnomAD v2:
7:127894592 G / A
gnomAD v3:
7:128254539 G / A
gnomAD v4:
chr7-128254539-G-A
Joint Max Group AF 0.08309104 (AFR)
Genomes Max Group AF 0.07918532 (AFR)
Exomes Max Group AF 0.08633422 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128254539G>A , CM000669.2:g.128254539G>A GRCh38
NC_000007.13:g.127894592G>A , CM000669.1:g.127894592G>A GRCh37
NC_000007.12:g.127681828G>A NCBI36
NG_007450.1:g.18262G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000308868.5:c.280G>A MANE Select ENSP00000312652.4:p.Val94Met
ENST00000308868.4:c.280G>A ENSP00000312652.4:p.Val94Met
NM_000230.2:c.280G>A NP_000221.1:p.Val94Met
XM_005250340.3:c.277G>A XP_005250397.1:p.Val93Met
XM_005250340.5:c.277G>A XP_005250397.1:p.Val93Met
NM_000230.3:c.280G>A MANE Select NP_000221.1:p.Val94Met
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