Canonical Allele Identifier: CA10808352
Gene: LEPR HGNC NCBI
LEPROT HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.65432298G>A
GRCh37 chr1:g.65897981G>A
gnomAD v2:
1:65897981 G / A
gnomAD v3:
1:65432298 G / A
gnomAD v4:
chr1-65432298-G-A
Joint Max Group AF 0.38994491 (NFE)
Genomes Max Group AF 0.38132685 (NFE)
Exomes Max Group AF 0.39041242 (NFE)
dbSNP:
1045895
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Genomic Alleles

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

Transcript Alleles

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