Canonical Allele Identifier: CA894492
Gene: LEPR HGNC NCBI

Linked Data

dbSNP Id: rs759227810
gnomAD v2: 1-66036362-T-C
gnomAD v4: 1-65570679-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.65570679T>C , CM000663.2:g.65570679T>C GRCh38
NC_000001.10:g.66036362T>C , CM000663.1:g.66036362T>C GRCh37
NC_000001.9:g.65808950T>C NCBI36
NG_015831.2:g.155115T>C , LRG_283:g.155115T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000349533.11:c.247T>C MANE Select ENSP00000330393.7:p.Ser83Pro
ENST00000344610.12:c.247T>C ENSP00000340884.8:p.Ser83Pro
ENST00000349533.10:c.247T>C ENSP00000330393.6:p.Ser83Pro
ENST00000371058.1:c.247T>C ENSP00000360097.1:p.Ser83Pro
ENST00000371059.7:c.247T>C ENSP00000360098.3:p.Ser83Pro
ENST00000371060.7:c.247T>C ENSP00000360099.3:p.Ser83Pro
ENST00000406510.7:c.-374T>C ENSP00000384025.3:n.-374T>C
ENST00000462765.5:n.397T>C
ENST00000616738.4:c.247T>C ENSP00000483390.1:p.Ser83Pro
NM_001003679.3:c.247T>C , LRG_283t1:c.247T>C NP_001003679.1:p.Ser83Pro
NM_001003680.3:c.247T>C , LRG_283t2:c.247T>C NP_001003680.1:p.Ser83Pro
NM_001198687.1:c.247T>C NP_001185616.1:p.Ser83Pro
NM_001198688.1:c.247T>C , LRG_283t4:c.247T>C NP_001185617.1:p.Ser83Pro
NM_001198689.1:c.247T>C NP_001185618.1:p.Ser83Pro
NM_002303.5:c.247T>C , LRG_283t3:c.247T>C NP_002294.2:p.Ser83Pro
NM_001198687.2:c.247T>C NP_001185616.1:p.Ser83Pro
NM_002303.6:c.247T>C MANE Select NP_002294.2:p.Ser83Pro
NM_001198689.2:c.247T>C NP_001185618.1:p.Ser83Pro