Canonical Allele Identifier: CA16609263

Gene: LEPR

Linked Data

• ClinVar Variation Id: 393446
• ClinVar RCV Id: RCV000445542
• dbSNP Id: rs1805094
• gnomAD v2: 1-66075952-G-T
• gnomAD v3: 1-65610269-G-T
• gnomAD v4: 1-65610269-G-T
• MyVariant Identifiers: chr1:g.66075952G>T (hg19) ; chr1:g.65610269G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.65610269G>T , CM000663.2:g.65610269G>T	GRCh38
NC_000001.10:g.66075952G>T , CM000663.1:g.66075952G>T	GRCh37
NC_000001.9:g.65848540G>T	NCBI36
NG_015831.2:g.194705G>T , LRG_283:g.194705G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000349533.11:c.1968G>T MANE Select	ENSP00000330393.7:p.Lys656Asn
ENST00000344610.12:c.1968G>T	ENSP00000340884.8:p.Lys656Asn
ENST00000349533.10:c.1968G>T	ENSP00000330393.6:p.Lys656Asn
ENST00000371058.1:c.1968G>T	ENSP00000360097.1:p.Lys656Asn
ENST00000371059.7:c.1968G>T	ENSP00000360098.3:p.Lys656Asn
ENST00000371060.7:c.1968G>T	ENSP00000360099.3:p.Lys656Asn
ENST00000406510.7:c.-126-25922G>T	ENSP00000384025.3:n.-126-25922G>T
ENST00000616738.4:c.1968G>T	ENSP00000483390.1:p.Lys656Asn
NM_001003679.3:c.1968G>T , LRG_283t1:c.1968G>T	NP_001003679.1:p.Lys656Asn
NM_001003680.3:c.1968G>T , LRG_283t2:c.1968G>T	NP_001003680.1:p.Lys656Asn
NM_001198687.1:c.1968G>T	NP_001185616.1:p.Lys656Asn
NM_001198688.1:c.1968G>T , LRG_283t4:c.1968G>T	NP_001185617.1:p.Lys656Asn
NM_001198689.1:c.1968G>T	NP_001185618.1:p.Lys656Asn
NM_002303.5:c.1968G>T , LRG_283t3:c.1968G>T	NP_002294.2:p.Lys656Asn
NM_001198687.2:c.1968G>T	NP_001185616.1:p.Lys656Asn
NM_002303.6:c.1968G>T MANE Select	NP_002294.2:p.Lys656Asn
NM_001198689.2:c.1968G>T	NP_001185618.1:p.Lys656Asn