Canonical Allele Identifier: CA340672018

Gene: LEPR

Linked Data

• COSMIC: COSM1726057 ; COSM1726058 ; COSM1726059
• MyVariant Identifiers: chr1:g.66036216A>C (hg19) ; chr1:g.65570533A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.65570533A>C , CM000663.2:g.65570533A>C	GRCh38
NC_000001.10:g.66036216A>C , CM000663.1:g.66036216A>C	GRCh37
NC_000001.9:g.65808804A>C	NCBI36
NG_015831.2:g.154969A>C , LRG_283:g.154969A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349533.11:c.101A>C MANE Select	ENSP00000330393.7:p.Lys34Thr
ENST00000344610.12:c.101A>C	ENSP00000340884.8:p.Lys34Thr
ENST00000349533.10:c.101A>C	ENSP00000330393.6:p.Lys34Thr
ENST00000371058.1:c.101A>C	ENSP00000360097.1:p.Lys34Thr
ENST00000371059.7:c.101A>C	ENSP00000360098.3:p.Lys34Thr
ENST00000371060.7:c.101A>C	ENSP00000360099.3:p.Lys34Thr
ENST00000406510.7:c.-520A>C	ENSP00000384025.3:n.-520A>C
ENST00000462765.5:n.251A>C
ENST00000616738.4:c.101A>C	ENSP00000483390.1:p.Lys34Thr
NM_001003679.3:c.101A>C , LRG_283t1:c.101A>C	NP_001003679.1:p.Lys34Thr
NM_001003680.3:c.101A>C , LRG_283t2:c.101A>C	NP_001003680.1:p.Lys34Thr
NM_001198687.1:c.101A>C	NP_001185616.1:p.Lys34Thr
NM_001198688.1:c.101A>C , LRG_283t4:c.101A>C	NP_001185617.1:p.Lys34Thr
NM_001198689.1:c.101A>C	NP_001185618.1:p.Lys34Thr
NM_002303.5:c.101A>C , LRG_283t3:c.101A>C	NP_002294.2:p.Lys34Thr
NM_001198687.2:c.101A>C	NP_001185616.1:p.Lys34Thr
NM_002303.6:c.101A>C MANE Select	NP_002294.2:p.Lys34Thr
NM_001198689.2:c.101A>C	NP_001185618.1:p.Lys34Thr