Canonical Allele Identifier: CA2743937793
Gene: LEPR HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.65500758T>C , CM000663.2:g.65500758T>C GRCh38
NC_000001.10:g.65966441T>C , CM000663.1:g.65966441T>C GRCh37
NC_000001.9:g.65739029T>C NCBI36
NG_015831.2:g.85194T>C , LRG_283:g.85194T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000349533.11:c.-20-64788T>C MANE Select ENSP00000330393.7:n.-20-64788T>C
ENST00000349533.10:c.-20-64788T>C ENSP00000330393.6:n.-20-64788T>C
ENST00000371059.7:c.-20-64788T>C ENSP00000360098.3:n.-20-64788T>C
ENST00000371060.7:c.-20-64788T>C ENSP00000360099.3:n.-20-64788T>C
ENST00000406510.7:c.-640-64788T>C ENSP00000384025.3:n.-640-64788T>C
NM_001003679.3:c.-20-64788T>C , LRG_283t1:c.-20-64788T>C NP_001003679.1:n.-20-64788T>C
NM_001003680.3:c.-20-64788T>C , LRG_283t2:c.-20-64788T>C NP_001003680.1:n.-20-64788T>C
NM_002303.5:c.-20-64788T>C , LRG_283t3:c.-20-64788T>C NP_002294.2:n.-20-64788T>C
NM_002303.6:c.-20-64788T>C MANE Select NP_002294.2:n.-20-64788T>C
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