Canonical Allele Identifier: CA577933786

Gene: LEP

Linked Data

• gnomAD v2: 7-127888867-C-T
• MyVariant Identifiers: chr7:g.127888867C>T (hg19) ; chr7:g.128248814C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128248814C>T , CM000669.2:g.128248814C>T	GRCh38
NC_000007.13:g.127888867C>T , CM000669.1:g.127888867C>T	GRCh37
NC_000007.12:g.127676103C>T	NCBI36
NG_007450.1:g.12537C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308868.5:c.-28-3177C>T MANE Select	ENSP00000312652.4:n.-28-3177C>T
ENST00000308868.4:c.-28-3177C>T	ENSP00000312652.4:n.-28-3177C>T
NM_000230.2:c.-28-3177C>T	NP_000221.1:n.-28-3177C>T
XM_005250340.3:c.-28-3177C>T	XP_005250397.1:n.-28-3177C>T
XM_005250340.5:c.-28-3177C>T	XP_005250397.1:n.-28-3177C>T
NM_000230.3:c.-28-3177C>T MANE Select	NP_000221.1:n.-28-3177C>T