Canonical Allele Identifier: CA24376869

Gene: LEPR

Linked Data

• dbSNP Id: rs181087986
• gnomAD v2: 1-65966412-G-A
• gnomAD v3: 1-65500729-G-A
• gnomAD v4: 1-65500729-G-A
• MyVariant Identifiers: chr1:g.65966412G>A (hg19) ; chr1:g.65500729G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.65500729G>A , CM000663.2:g.65500729G>A	GRCh38
NC_000001.10:g.65966412G>A , CM000663.1:g.65966412G>A	GRCh37
NC_000001.9:g.65739000G>A	NCBI36
NG_015831.2:g.85165G>A , LRG_283:g.85165G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000349533.11:c.-20-64817G>A MANE Select	ENSP00000330393.7:n.-20-64817G>A
ENST00000349533.10:c.-20-64817G>A	ENSP00000330393.6:n.-20-64817G>A
ENST00000371059.7:c.-20-64817G>A	ENSP00000360098.3:n.-20-64817G>A
ENST00000371060.7:c.-20-64817G>A	ENSP00000360099.3:n.-20-64817G>A
ENST00000406510.7:c.-640-64817G>A	ENSP00000384025.3:n.-640-64817G>A
NM_001003679.3:c.-20-64817G>A , LRG_283t1:c.-20-64817G>A	NP_001003679.1:n.-20-64817G>A
NM_001003680.3:c.-20-64817G>A , LRG_283t2:c.-20-64817G>A	NP_001003680.1:n.-20-64817G>A
NM_002303.5:c.-20-64817G>A , LRG_283t3:c.-20-64817G>A	NP_002294.2:n.-20-64817G>A
NM_002303.6:c.-20-64817G>A MANE Select	NP_002294.2:n.-20-64817G>A