Canonical Allele Identifier: CA523708966

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.65432298G>T , CM000663.2:g.65432298G>T GRCh38
NC_000001.10:g.65897981G>T , CM000663.1:g.65897981G>T GRCh37
NC_000001.9:g.65670569G>T NCBI36
NG_015831.2:g.16734G>T , LRG_283:g.16734G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000349533.11:c.-21+6920G>T (LEPR) MANE Select ENSP00000330393.7:n.-21+6920G>T
ENST00000371065.9:c.*379G>T (LEPROT) MANE Select ENSP00000360104.4:n.*379G>T
ENST00000349533.10:c.-21+6920G>T (LEPR) ENSP00000330393.6:n.-21+6920G>T
ENST00000371059.7:c.-21+6920G>T (LEPR) ENSP00000360098.3:n.-21+6920G>T
ENST00000371060.7:c.-21+6920G>T (LEPR) ENSP00000360099.3:n.-21+6920G>T
ENST00000371065.8:c.*379G>T (LEPROT) ENSP00000360104.4:n.*379G>T
ENST00000406510.7:c.-641+6920G>T (LEPR) ENSP00000384025.3:n.-641+6920G>T
ENST00000613538.1:c.*379G>T (LEPROT) ENSP00000483521.1:n.*379G>T
NM_001003679.3:c.-21+6920G>T , LRG_283t1:c.-21+6920G>T (LEPR) NP_001003679.1:n.-21+6920G>T
NM_001003680.3:c.-21+6920G>T , LRG_283t2:c.-21+6920G>T (LEPR) NP_001003680.1:n.-21+6920G>T
NM_001198681.1:c.*379G>T (LEPROT) NP_001185610.1:n.*379G>T
NM_002303.5:c.-21+6920G>T , LRG_283t3:c.-21+6920G>T (LEPR) NP_002294.2:n.-21+6920G>T
NM_017526.4:c.*379G>T (LEPROT) NP_059996.1:n.*379G>T
NM_017526.5:c.*379G>T (LEPROT) MANE Select NP_059996.1:n.*379G>T
NM_002303.6:c.-21+6920G>T (LEPR) MANE Select NP_002294.2:n.-21+6920G>T
NM_001198681.2:c.*379G>T (LEPROT) NP_001185610.1:n.*379G>T