Canonical Allele Identifier: CA895184
Gene: LEPR HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.65636397C>T
GRCh37 chr1:g.66102080C>T
gnomAD v2:
1:66102080 C / T
gnomAD v3:
1:65636397 C / T
gnomAD v4:
chr1-65636397-C-T
Joint Max Group AF 0.00006224 (AFR)
Genomes Max Group AF 0.00006266 (AFR)
Exomes Max Group AF 0.00002375 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.65636397C>T , CM000663.2:g.65636397C>T GRCh38
NC_000001.10:g.66102080C>T , CM000663.1:g.66102080C>T GRCh37
NC_000001.9:g.65874668C>T NCBI36
NG_015831.2:g.220833C>T , LRG_283:g.220833C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000349533.11:c.2880C>T MANE Select ENSP00000330393.7:p.Asn960=
ENST00000349533.10:c.2880C>T ENSP00000330393.6:p.Asn960=
ENST00000406510.7:c.81C>T ENSP00000384025.3:p.Asn27=
NM_002303.5:c.2880C>T , LRG_283t3:c.2880C>T NP_002294.2:p.Asn960=
NM_002303.6:c.2880C>T MANE Select NP_002294.2:p.Asn960=
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