Canonical Allele Identifier: CA833092660
Gene: LEP HGNC NCBI

Linked Data

dbSNP Id: rs1408783152
gnomAD v3: 7-128248812-T-G
gnomAD v4: 7-128248812-T-G
MyVariant Identifiers: chr7:g.127888865T>G (hg19) chr7:g.128248812T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128248812T>G , CM000669.2:g.128248812T>G GRCh38
NC_000007.13:g.127888865T>G , CM000669.1:g.127888865T>G GRCh37
NC_000007.12:g.127676101T>G NCBI36
NG_007450.1:g.12535T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000308868.5:c.-28-3179T>G MANE Select ENSP00000312652.4:n.-28-3179T>G
ENST00000308868.4:c.-28-3179T>G ENSP00000312652.4:n.-28-3179T>G
NM_000230.2:c.-28-3179T>G NP_000221.1:n.-28-3179T>G
XM_005250340.3:c.-28-3179T>G XP_005250397.1:n.-28-3179T>G
XM_005250340.5:c.-28-3179T>G XP_005250397.1:n.-28-3179T>G
NM_000230.3:c.-28-3179T>G MANE Select NP_000221.1:n.-28-3179T>G
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