Canonical Allele Identifier: CA10840127

Gene: LEPR

Linked Data

• dbSNP Id: rs11208659
• gnomAD v2: 1-65979280-T-C
• gnomAD v3: 1-65513597-T-C
• gnomAD v4: 1-65513597-T-C
• MyVariant Identifiers: chr1:g.65979280T>C (hg19) ; chr1:g.65513597T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.65513597T>C , CM000663.2:g.65513597T>C	GRCh38
NC_000001.10:g.65979280T>C , CM000663.1:g.65979280T>C	GRCh37
NC_000001.9:g.65751868T>C	NCBI36
NG_015831.2:g.98033T>C , LRG_283:g.98033T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000349533.11:c.-20-51949T>C MANE Select	ENSP00000330393.7:n.-20-51949T>C
ENST00000349533.10:c.-20-51949T>C	ENSP00000330393.6:n.-20-51949T>C
ENST00000371059.7:c.-20-51949T>C	ENSP00000360098.3:n.-20-51949T>C
ENST00000371060.7:c.-20-51949T>C	ENSP00000360099.3:n.-20-51949T>C
ENST00000406510.7:c.-640-51949T>C	ENSP00000384025.3:n.-640-51949T>C
NM_001003679.3:c.-20-51949T>C , LRG_283t1:c.-20-51949T>C	NP_001003679.1:n.-20-51949T>C
NM_001003680.3:c.-20-51949T>C , LRG_283t2:c.-20-51949T>C	NP_001003680.1:n.-20-51949T>C
NM_002303.5:c.-20-51949T>C , LRG_283t3:c.-20-51949T>C	NP_002294.2:n.-20-51949T>C
NM_002303.6:c.-20-51949T>C MANE Select	NP_002294.2:n.-20-51949T>C