Canonical Allele Identifier: CA1172371426
Gene: LEPR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.65610228C= , CM000663.2:g.65610228C= GRCh38
NC_000001.10:g.66075911C= , CM000663.1:g.66075911C= GRCh37
NC_000001.9:g.65848499C= NCBI36
NG_015831.2:g.194664C= , LRG_283:g.194664C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000349533.11:c.1927C= MANE Select ENSP00000330393.7:p.Pro643=
ENST00000344610.12:c.1927C= ENSP00000340884.8:p.Pro643=
ENST00000349533.10:c.1927C= ENSP00000330393.6:p.Pro643=
ENST00000371058.1:c.1927C= ENSP00000360097.1:p.Pro643=
ENST00000371059.7:c.1927C= ENSP00000360098.3:p.Pro643=
ENST00000371060.7:c.1927C= ENSP00000360099.3:p.Pro643=
ENST00000406510.7:c.-126-25963C= ENSP00000384025.3:n.-126-25963C=
ENST00000462765.5:n.2077C=
ENST00000616738.4:c.1927C= ENSP00000483390.1:p.Pro643=
NM_001003679.3:c.1927C= , LRG_283t1:c.1927C= NP_001003679.1:p.Pro643=
NM_001003680.3:c.1927C= , LRG_283t2:c.1927C= NP_001003680.1:p.Pro643=
NM_001198687.1:c.1927C= NP_001185616.1:p.Pro643=
NM_001198688.1:c.1927C= , LRG_283t4:c.1927C= NP_001185617.1:p.Pro643=
NM_001198689.1:c.1927C= NP_001185618.1:p.Pro643=
NM_002303.5:c.1927C= , LRG_283t3:c.1927C= NP_002294.2:p.Pro643=
NM_001198687.2:c.1927C= NP_001185616.1:p.Pro643=
NM_002303.6:c.1927C= MANE Select NP_002294.2:p.Pro643=
NM_001198689.2:c.1927C= NP_001185618.1:p.Pro643=