Canonical Allele Identifier: CA833092029

Gene: LEP

Linked Data

• dbSNP Id: rs1431209528
• gnomAD v3: 7-128247192-T-C
• gnomAD v4: 7-128247192-T-C
• MyVariant Identifiers: chr7:g.127887245T>C (hg19) ; chr7:g.128247192T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128247192T>C , CM000669.2:g.128247192T>C	GRCh38
NC_000007.13:g.127887245T>C , CM000669.1:g.127887245T>C	GRCh37
NC_000007.12:g.127674481T>C	NCBI36
NG_007450.1:g.10915T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308868.5:c.-28-4799T>C MANE Select	ENSP00000312652.4:n.-28-4799T>C
ENST00000308868.4:c.-28-4799T>C	ENSP00000312652.4:n.-28-4799T>C
NM_000230.2:c.-28-4799T>C	NP_000221.1:n.-28-4799T>C
XM_005250340.3:c.-28-4799T>C	XP_005250397.1:n.-28-4799T>C
XM_005250340.5:c.-28-4799T>C	XP_005250397.1:n.-28-4799T>C
NM_000230.3:c.-28-4799T>C MANE Select	NP_000221.1:n.-28-4799T>C