Canonical Allele Identifier: CA10728085
Gene: LEPR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.65442790A>C , CM000663.2:g.65442790A>C GRCh38
NC_000001.10:g.65908473A>C , CM000663.1:g.65908473A>C GRCh37
NC_000001.9:g.65681061A>C NCBI36
NG_015831.2:g.27226A>C , LRG_283:g.27226A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000349533.11:c.-21+17412A>C MANE Select ENSP00000330393.7:n.-21+17412A>C
ENST00000349533.10:c.-21+17412A>C ENSP00000330393.6:n.-21+17412A>C
ENST00000371059.7:c.-21+17412A>C ENSP00000360098.3:n.-21+17412A>C
ENST00000371060.7:c.-21+17412A>C ENSP00000360099.3:n.-21+17412A>C
ENST00000406510.7:c.-641+17412A>C ENSP00000384025.3:n.-641+17412A>C
NM_001003679.3:c.-21+17412A>C , LRG_283t1:c.-21+17412A>C NP_001003679.1:n.-21+17412A>C
NM_001003680.3:c.-21+17412A>C , LRG_283t2:c.-21+17412A>C NP_001003680.1:n.-21+17412A>C
NM_002303.5:c.-21+17412A>C , LRG_283t3:c.-21+17412A>C NP_002294.2:n.-21+17412A>C
NM_002303.6:c.-21+17412A>C MANE Select NP_002294.2:n.-21+17412A>C