Canonical Allele Identifier: CA10728081
Gene: LEPR HGNC NCBI

Linked Data

dbSNP Id: rs11804091
gnomAD v2: 1-65903879-A-G
gnomAD v3: 1-65438196-A-G
gnomAD v4: 1-65438196-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.65438196A>G , CM000663.2:g.65438196A>G GRCh38
NC_000001.10:g.65903879A>G , CM000663.1:g.65903879A>G GRCh37
NC_000001.9:g.65676467A>G NCBI36
NG_015831.2:g.22632A>G , LRG_283:g.22632A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000349533.11:c.-21+12818A>G MANE Select ENSP00000330393.7:n.-21+12818A>G
ENST00000349533.10:c.-21+12818A>G ENSP00000330393.6:n.-21+12818A>G
ENST00000371059.7:c.-21+12818A>G ENSP00000360098.3:n.-21+12818A>G
ENST00000371060.7:c.-21+12818A>G ENSP00000360099.3:n.-21+12818A>G
ENST00000406510.7:c.-641+12818A>G ENSP00000384025.3:n.-641+12818A>G
NM_001003679.3:c.-21+12818A>G , LRG_283t1:c.-21+12818A>G NP_001003679.1:n.-21+12818A>G
NM_001003680.3:c.-21+12818A>G , LRG_283t2:c.-21+12818A>G NP_001003680.1:n.-21+12818A>G
NM_002303.5:c.-21+12818A>G , LRG_283t3:c.-21+12818A>G NP_002294.2:n.-21+12818A>G
NM_002303.6:c.-21+12818A>G MANE Select NP_002294.2:n.-21+12818A>G