Canonical Allele Identifier: CA894464

Gene: LEPR

Linked Data

• dbSNP Id: rs753708637
• ExAC: 1:66036197 A / AT
• gnomAD v2: 1-66036197-A-AT
• MyVariant Identifiers: chr1:g.66036197_66036198insT (hg19) ; chr1:g.65570514_65570515insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.65570516dup , CM000663.2:g.65570516dup	GRCh38
NC_000001.10:g.66036199dup , CM000663.1:g.66036199dup	GRCh37
NC_000001.9:g.65808787dup	NCBI36
NG_015831.2:g.154952dup , LRG_283:g.154952dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349533.11:c.84dup MANE Select	ENSP00000330393.7:p.Thr29TyrfsTer6
ENST00000344610.12:c.84dup	ENSP00000340884.8:p.Thr29TyrfsTer6
ENST00000349533.10:c.84dup	ENSP00000330393.6:p.Thr29TyrfsTer6
ENST00000371058.1:c.84dup	ENSP00000360097.1:p.Thr29TyrfsTer6
ENST00000371059.7:c.84dup	ENSP00000360098.3:p.Thr29TyrfsTer6
ENST00000371060.7:c.84dup	ENSP00000360099.3:p.Thr29TyrfsTer6
ENST00000406510.7:c.-537dup	ENSP00000384025.3:n.-537dup
ENST00000462765.5:n.234dup
ENST00000616738.4:c.84dup	ENSP00000483390.1:p.Thr29TyrfsTer6
NM_001003679.3:c.84dup , LRG_283t1:c.84dup	NP_001003679.1:p.Thr29TyrfsTer6
NM_001003680.3:c.84dup , LRG_283t2:c.84dup	NP_001003680.1:p.Thr29TyrfsTer6
NM_001198687.1:c.84dup	NP_001185616.1:p.Thr29TyrfsTer6
NM_001198688.1:c.84dup , LRG_283t4:c.84dup	NP_001185617.1:p.Thr29TyrfsTer6
NM_001198689.1:c.84dup	NP_001185618.1:p.Thr29TyrfsTer6
NM_002303.5:c.84dup , LRG_283t3:c.84dup	NP_002294.2:p.Thr29TyrfsTer6
NM_001198687.2:c.84dup	NP_001185616.1:p.Thr29TyrfsTer6
NM_002303.6:c.84dup MANE Select	NP_002294.2:p.Thr29TyrfsTer6
NM_001198689.2:c.84dup	NP_001185618.1:p.Thr29TyrfsTer6