Canonical Allele Identifier: CA1172326230
Gene: LEPR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.65500780T= , CM000663.2:g.65500780T= GRCh38
NC_000001.10:g.65966463T= , CM000663.1:g.65966463T= GRCh37
NC_000001.9:g.65739051T= NCBI36
NG_015831.2:g.85216T= , LRG_283:g.85216T=

Transcript Alleles

HGVS Amino-acid change
ENST00000349533.11:c.-20-64766T= MANE Select ENSP00000330393.7:n.-20-64766T=
ENST00000349533.10:c.-20-64766T= ENSP00000330393.6:n.-20-64766T=
ENST00000371059.7:c.-20-64766T= ENSP00000360098.3:n.-20-64766T=
ENST00000371060.7:c.-20-64766T= ENSP00000360099.3:n.-20-64766T=
ENST00000406510.7:c.-640-64766T= ENSP00000384025.3:n.-640-64766T=
NM_001003679.3:c.-20-64766T= , LRG_283t1:c.-20-64766T= NP_001003679.1:n.-20-64766T=
NM_001003680.3:c.-20-64766T= , LRG_283t2:c.-20-64766T= NP_001003680.1:n.-20-64766T=
NM_002303.5:c.-20-64766T= , LRG_283t3:c.-20-64766T= NP_002294.2:n.-20-64766T=
NM_002303.6:c.-20-64766T= MANE Select NP_002294.2:n.-20-64766T=