Canonical Allele Identifier: CA737937160

Gene: LEPR

Linked Data

• dbSNP Id: rs1203685822
• gnomAD v3: 1-65476968-C-G
• gnomAD v4: 1-65476968-C-G
• MyVariant Identifiers: chr1:g.65942651C>G (hg19) ; chr1:g.65476968C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.65476968C>G , CM000663.2:g.65476968C>G	GRCh38
NC_000001.10:g.65942651C>G , CM000663.1:g.65942651C>G	GRCh37
NC_000001.9:g.65715239C>G	NCBI36
NG_015831.2:g.61404C>G , LRG_283:g.61404C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000349533.11:c.-21+51590C>G MANE Select	ENSP00000330393.7:n.-21+51590C>G
ENST00000349533.10:c.-21+51590C>G	ENSP00000330393.6:n.-21+51590C>G
ENST00000371059.7:c.-21+51590C>G	ENSP00000360098.3:n.-21+51590C>G
ENST00000371060.7:c.-21+51590C>G	ENSP00000360099.3:n.-21+51590C>G
ENST00000406510.7:c.-641+51590C>G	ENSP00000384025.3:n.-641+51590C>G
NM_001003679.3:c.-21+51590C>G , LRG_283t1:c.-21+51590C>G	NP_001003679.1:n.-21+51590C>G
NM_001003680.3:c.-21+51590C>G , LRG_283t2:c.-21+51590C>G	NP_001003680.1:n.-21+51590C>G
NM_002303.5:c.-21+51590C>G , LRG_283t3:c.-21+51590C>G	NP_002294.2:n.-21+51590C>G
NM_002303.6:c.-21+51590C>G MANE Select	NP_002294.2:n.-21+51590C>G