Canonical Allele Identifier: CA10808360
Gene: LEPR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.65445989G>T , CM000663.2:g.65445989G>T GRCh38
NC_000001.10:g.65911672G>T , CM000663.1:g.65911672G>T GRCh37
NC_000001.9:g.65684260G>T NCBI36
NG_015831.2:g.30425G>T , LRG_283:g.30425G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000349533.11:c.-21+20611G>T MANE Select ENSP00000330393.7:n.-21+20611G>T
ENST00000349533.10:c.-21+20611G>T ENSP00000330393.6:n.-21+20611G>T
ENST00000371059.7:c.-21+20611G>T ENSP00000360098.3:n.-21+20611G>T
ENST00000371060.7:c.-21+20611G>T ENSP00000360099.3:n.-21+20611G>T
ENST00000406510.7:c.-641+20611G>T ENSP00000384025.3:n.-641+20611G>T
NM_001003679.3:c.-21+20611G>T , LRG_283t1:c.-21+20611G>T NP_001003679.1:n.-21+20611G>T
NM_001003680.3:c.-21+20611G>T , LRG_283t2:c.-21+20611G>T NP_001003680.1:n.-21+20611G>T
NM_002303.5:c.-21+20611G>T , LRG_283t3:c.-21+20611G>T NP_002294.2:n.-21+20611G>T
NM_002303.6:c.-21+20611G>T MANE Select NP_002294.2:n.-21+20611G>T