Canonical Allele Identifier: CA833092667
Gene: LEP HGNC NCBI

Linked Data

dbSNP Id: rs1430919172
gnomAD v3: 7-128248858-C-T
gnomAD v4: 7-128248858-C-T
MyVariant Identifiers: chr7:g.127888911C>T (hg19) chr7:g.128248858C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128248858C>T , CM000669.2:g.128248858C>T GRCh38
NC_000007.13:g.127888911C>T , CM000669.1:g.127888911C>T GRCh37
NC_000007.12:g.127676147C>T NCBI36
NG_007450.1:g.12581C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000308868.5:c.-28-3133C>T MANE Select ENSP00000312652.4:n.-28-3133C>T
ENST00000308868.4:c.-28-3133C>T ENSP00000312652.4:n.-28-3133C>T
NM_000230.2:c.-28-3133C>T NP_000221.1:n.-28-3133C>T
XM_005250340.3:c.-28-3133C>T XP_005250397.1:n.-28-3133C>T
XM_005250340.5:c.-28-3133C>T XP_005250397.1:n.-28-3133C>T
NM_000230.3:c.-28-3133C>T MANE Select NP_000221.1:n.-28-3133C>T
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