Canonical Allele Identifier: CA418227700
Gene: LEPR HGNC NCBI

Linked Data

dbSNP Id: rs2101014426
MyVariant Identifiers: chr1:g.66088643A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.65622960A>G , CM000663.2:g.65622960A>G GRCh38
NC_000001.10:g.66088643A>G , CM000663.1:g.66088643A>G GRCh37
NC_000001.9:g.65861231A>G NCBI36
NG_015831.2:g.207396A>G , LRG_283:g.207396A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000349533.11:c.2652A>G MANE Select ENSP00000330393.7:p.Ala884=
ENST00000344610.12:c.2652A>G ENSP00000340884.8:p.Ala884=
ENST00000349533.10:c.2652A>G ENSP00000330393.6:p.Ala884=
ENST00000371058.1:c.2652A>G ENSP00000360097.1:p.Ala884=
ENST00000371059.7:c.2652A>G ENSP00000360098.3:p.Ala884=
ENST00000371060.7:c.2652A>G ENSP00000360099.3:p.Ala884=
ENST00000406510.7:c.-126-13231A>G ENSP00000384025.3:n.-126-13231A>G
ENST00000471762.1:n.245A>G
ENST00000616738.4:c.2652A>G ENSP00000483390.1:p.Ala884=
NM_001003679.3:c.2652A>G , LRG_283t1:c.2652A>G NP_001003679.1:p.Ala884=
NM_001003680.3:c.2652A>G , LRG_283t2:c.2652A>G NP_001003680.1:p.Ala884=
NM_001198687.1:c.2652A>G NP_001185616.1:p.Ala884=
NM_001198688.1:c.2652A>G , LRG_283t4:c.2652A>G NP_001185617.1:p.Ala884=
NM_001198689.1:c.2652A>G NP_001185618.1:p.Ala884=
NM_002303.5:c.2652A>G , LRG_283t3:c.2652A>G NP_002294.2:p.Ala884=
NM_001198687.2:c.2652A>G NP_001185616.1:p.Ala884=
NM_002303.6:c.2652A>G MANE Select NP_002294.2:p.Ala884=
NM_001198689.2:c.2652A>G NP_001185618.1:p.Ala884=