Canonical Allele Identifier: CA166743475
Gene: LEP HGNC NCBI

Linked Data

dbSNP Id: rs58562692
gnomAD v2: 7-127887015-G-A
gnomAD v3: 7-128246962-G-A
gnomAD v4: 7-128246962-G-A
COSMIC: COSN15972469
MyVariant Identifiers: chr7:g.127887015G>A (hg19) chr7:g.128246962G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128246962G>A , CM000669.2:g.128246962G>A GRCh38
NC_000007.13:g.127887015G>A , CM000669.1:g.127887015G>A GRCh37
NC_000007.12:g.127674251G>A NCBI36
NG_007450.1:g.10685G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000308868.5:c.-28-5029G>A MANE Select ENSP00000312652.4:n.-28-5029G>A
ENST00000308868.4:c.-28-5029G>A ENSP00000312652.4:n.-28-5029G>A
NM_000230.2:c.-28-5029G>A NP_000221.1:n.-28-5029G>A
XM_005250340.3:c.-28-5029G>A XP_005250397.1:n.-28-5029G>A
XM_005250340.5:c.-28-5029G>A XP_005250397.1:n.-28-5029G>A
NM_000230.3:c.-28-5029G>A MANE Select NP_000221.1:n.-28-5029G>A
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