Canonical Allele Identifier: CA340678307

Gene: LEPR

Linked Data

• dbSNP Id: rs1188104921
• gnomAD v2: 1-66058478-G-A
• gnomAD v4: 1-65592795-G-A
• MyVariant Identifiers: chr1:g.66058478G>A (hg19) ; chr1:g.65592795G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.65592795G>A , CM000663.2:g.65592795G>A	GRCh38
NC_000001.10:g.66058478G>A , CM000663.1:g.66058478G>A	GRCh37
NC_000001.9:g.65831066G>A	NCBI36
NG_015831.2:g.177231G>A , LRG_283:g.177231G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349533.11:c.633G>A MANE Select	ENSP00000330393.7:p.Met211Ile
ENST00000344610.12:c.633G>A	ENSP00000340884.8:p.Met211Ile
ENST00000349533.10:c.633G>A	ENSP00000330393.6:p.Met211Ile
ENST00000371058.1:c.633G>A	ENSP00000360097.1:p.Met211Ile
ENST00000371059.7:c.633G>A	ENSP00000360098.3:p.Met211Ile
ENST00000371060.7:c.633G>A	ENSP00000360099.3:p.Met211Ile
ENST00000406510.7:c.-127+20346G>A	ENSP00000384025.3:n.-127+20346G>A
ENST00000462765.5:n.783G>A
ENST00000616738.4:c.633G>A	ENSP00000483390.1:p.Met211Ile
NM_001003679.3:c.633G>A , LRG_283t1:c.633G>A	NP_001003679.1:p.Met211Ile
NM_001003680.3:c.633G>A , LRG_283t2:c.633G>A	NP_001003680.1:p.Met211Ile
NM_001198687.1:c.633G>A	NP_001185616.1:p.Met211Ile
NM_001198688.1:c.633G>A , LRG_283t4:c.633G>A	NP_001185617.1:p.Met211Ile
NM_001198689.1:c.633G>A	NP_001185618.1:p.Met211Ile
NM_002303.5:c.633G>A , LRG_283t3:c.633G>A	NP_002294.2:p.Met211Ile
NM_001198687.2:c.633G>A	NP_001185616.1:p.Met211Ile
NM_002303.6:c.633G>A MANE Select	NP_002294.2:p.Met211Ile
NM_001198689.2:c.633G>A	NP_001185618.1:p.Met211Ile