Canonical Allele Identifier: CA369443944

Gene: LEP

Linked Data

• gnomAD v4: 7-128254576-A-T
• MyVariant Identifiers: chr7:g.127894629A>T (hg19) ; chr7:g.128254576A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128254576A>T , CM000669.2:g.128254576A>T	GRCh38
NC_000007.13:g.127894629A>T , CM000669.1:g.127894629A>T	GRCh37
NC_000007.12:g.127681865A>T	NCBI36
NG_007450.1:g.18299A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000308868.5:c.317A>T MANE Select	ENSP00000312652.4:p.Asp106Val
ENST00000308868.4:c.317A>T	ENSP00000312652.4:p.Asp106Val
NM_000230.2:c.317A>T	NP_000221.1:p.Asp106Val
XM_005250340.3:c.314A>T	XP_005250397.1:p.Asp105Val
XM_005250340.5:c.314A>T	XP_005250397.1:p.Asp105Val
NM_000230.3:c.317A>T MANE Select	NP_000221.1:p.Asp106Val