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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA123668
Gene: LEP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
13987
ClinVar RCV Id:
RCV000015024
dbSNP Id:
rs104894023
gnomAD v4:
7-128254572-C-T
MyVariant Identifiers:
chr7:g.127894625C>T (hg19)
chr7:g.128254572C>T (hg38)
PubMed:
PMID:9500540
PMID:15070752
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.128254572C>T , CM000669.2:g.128254572C>T
GRCh38
NC_000007.13:g.127894625C>T , CM000669.1:g.127894625C>T
GRCh37
NC_000007.12:g.127681861C>T
NCBI36
NG_007450.1:g.18295C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000308868.5:c.313C>T
MANE Select
ENSP00000312652.4:p.Arg105Trp
ENST00000308868.4:c.313C>T
ENSP00000312652.4:p.Arg105Trp
NM_000230.2:c.313C>T
NP_000221.1:p.Arg105Trp
XM_005250340.3:c.310C>T
XP_005250397.1:p.Arg104Trp
XM_005250340.5:c.310C>T
XP_005250397.1:p.Arg104Trp
NM_000230.3:c.313C>T
MANE Select
NP_000221.1:p.Arg105Trp
Search 100 bp 5'
Search 100 bp 3'