Canonical Allele Identifier: CA1172336643
Gene: LEPR HGNC NCBI

Linked Data

dbSNP Id: rs1650010466

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.65526907T>C , CM000663.2:g.65526907T>C GRCh38
NC_000001.10:g.65992590T>C , CM000663.1:g.65992590T>C GRCh37
NC_000001.9:g.65765178T>C NCBI36
NG_015831.2:g.111343T>C , LRG_283:g.111343T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000349533.11:c.-20-38639T>C MANE Select ENSP00000330393.7:n.-20-38639T>C
ENST00000344610.12:c.-21+1089T>C ENSP00000340884.8:n.-21+1089T>C
ENST00000349533.10:c.-20-38639T>C ENSP00000330393.6:n.-20-38639T>C
ENST00000371059.7:c.-20-38639T>C ENSP00000360098.3:n.-20-38639T>C
ENST00000371060.7:c.-20-38639T>C ENSP00000360099.3:n.-20-38639T>C
ENST00000406510.7:c.-640-38639T>C ENSP00000384025.3:n.-640-38639T>C
ENST00000462765.5:n.130+1089T>C
ENST00000616738.4:c.-21+1089T>C ENSP00000483390.1:n.-21+1089T>C
NM_001003679.3:c.-20-38639T>C , LRG_283t1:c.-20-38639T>C NP_001003679.1:n.-20-38639T>C
NM_001003680.3:c.-20-38639T>C , LRG_283t2:c.-20-38639T>C NP_001003680.1:n.-20-38639T>C
NM_001198687.1:c.-21+1089T>C NP_001185616.1:n.-21+1089T>C
NM_001198688.1:c.-21+1089T>C , LRG_283t4:c.-21+1089T>C NP_001185617.1:n.-21+1089T>C
NM_001198689.1:c.-21+1089T>C NP_001185618.1:n.-21+1089T>C
NM_002303.5:c.-20-38639T>C , LRG_283t3:c.-20-38639T>C NP_002294.2:n.-20-38639T>C
NM_001198687.2:c.-21+1089T>C NP_001185616.1:n.-21+1089T>C
NM_002303.6:c.-20-38639T>C MANE Select NP_002294.2:n.-20-38639T>C
NM_001198689.2:c.-21+1089T>C NP_001185618.1:n.-21+1089T>C