Canonical Allele Identifier: CA2646077410
Gene: LEPR HGNC NCBI

Linked Data

gnomAD v4: 1-65570840-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.65570840T>A , CM000663.2:g.65570840T>A GRCh38
NC_000001.10:g.66036523T>A , CM000663.1:g.66036523T>A GRCh37
NC_000001.9:g.65809111T>A NCBI36
NG_015831.2:g.155276T>A , LRG_283:g.155276T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000349533.11:c.370+38T>A MANE Select ENSP00000330393.7:n.370+38T>A
ENST00000344610.12:c.370+38T>A ENSP00000340884.8:n.370+38T>A
ENST00000349533.10:c.370+38T>A ENSP00000330393.6:n.370+38T>A
ENST00000371058.1:c.370+38T>A ENSP00000360097.1:n.370+38T>A
ENST00000371059.7:c.370+38T>A ENSP00000360098.3:n.370+38T>A
ENST00000371060.7:c.370+38T>A ENSP00000360099.3:n.370+38T>A
ENST00000406510.7:c.-251+38T>A ENSP00000384025.3:n.-251+38T>A
ENST00000462765.5:n.520+38T>A
ENST00000616738.4:c.370+38T>A ENSP00000483390.1:n.370+38T>A
NM_001003679.3:c.370+38T>A , LRG_283t1:c.370+38T>A NP_001003679.1:n.370+38T>A
NM_001003680.3:c.370+38T>A , LRG_283t2:c.370+38T>A NP_001003680.1:n.370+38T>A
NM_001198687.1:c.370+38T>A NP_001185616.1:n.370+38T>A
NM_001198688.1:c.370+38T>A , LRG_283t4:c.370+38T>A NP_001185617.1:n.370+38T>A
NM_001198689.1:c.370+38T>A NP_001185618.1:n.370+38T>A
NM_002303.5:c.370+38T>A , LRG_283t3:c.370+38T>A NP_002294.2:n.370+38T>A
NM_001198687.2:c.370+38T>A NP_001185616.1:n.370+38T>A
NM_002303.6:c.370+38T>A MANE Select NP_002294.2:n.370+38T>A
NM_001198689.2:c.370+38T>A NP_001185618.1:n.370+38T>A