Canonical Allele Identifier: CA1172303309
Gene: LEPR HGNC NCBI
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Genomic Alleles

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

Transcript Alleles

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