Canonical Allele Identifier: CA2777834847

Gene: LEP

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128248834T>C , CM000669.2:g.128248834T>C	GRCh38
NC_000007.13:g.127888887T>C , CM000669.1:g.127888887T>C	GRCh37
NC_000007.12:g.127676123T>C	NCBI36
NG_007450.1:g.12557T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308868.5:c.-28-3157T>C MANE Select	ENSP00000312652.4:n.-28-3157T>C
ENST00000308868.4:c.-28-3157T>C	ENSP00000312652.4:n.-28-3157T>C
NM_000230.2:c.-28-3157T>C	NP_000221.1:n.-28-3157T>C
XM_005250340.3:c.-28-3157T>C	XP_005250397.1:n.-28-3157T>C
XM_005250340.5:c.-28-3157T>C	XP_005250397.1:n.-28-3157T>C
NM_000230.3:c.-28-3157T>C MANE Select	NP_000221.1:n.-28-3157T>C