Canonical Allele Identifier: CA369443726

Gene: LEP

Linked Data

• MyVariant Identifiers: chr7:g.127894530C>T (hg19) ; chr7:g.128254477C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128254477C>T , CM000669.2:g.128254477C>T	GRCh38
NC_000007.13:g.127894530C>T , CM000669.1:g.127894530C>T	GRCh37
NC_000007.12:g.127681766C>T	NCBI36
NG_007450.1:g.18200C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000308868.5:c.218C>T MANE Select	ENSP00000312652.4:p.Ser73Phe
ENST00000308868.4:c.218C>T	ENSP00000312652.4:p.Ser73Phe
NM_000230.2:c.218C>T	NP_000221.1:p.Ser73Phe
XM_005250340.3:c.215C>T	XP_005250397.1:p.Ser72Phe
XM_005250340.5:c.215C>T	XP_005250397.1:p.Ser72Phe
NM_000230.3:c.218C>T MANE Select	NP_000221.1:p.Ser73Phe