Canonical Allele Identifier: CA214124
Gene: LEPR HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.65636397C>G
GRCh37 chr1:g.66102080C>G
Revel Score:
ENST00000349533 (MANE Select) 0.048
ENST00000406510 0.048
gnomAD v2:
1:66102080 C / G
gnomAD v3:
1:65636397 C / G
gnomAD v4:
chr1-65636397-C-G
Joint Max Group AF 0.00001063 (AFR)
Genomes Max Group AF 0.00000799 (AFR)
ClinVar RCV:
RCV000030138
ClinVar Variation:
36465
dbSNP:
193922650
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000349533.11:c.2880C>G MANE Select ENSP00000330393.7:p.Asn960Lys
ENST00000349533.10:c.2880C>G ENSP00000330393.6:p.Asn960Lys
ENST00000406510.7:c.81C>G ENSP00000384025.3:p.Asn27Lys
NM_002303.5:c.2880C>G , LRG_283t3:c.2880C>G NP_002294.2:p.Asn960Lys
NM_002303.6:c.2880C>G MANE Select NP_002294.2:p.Asn960Lys
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