Canonical Allele Identifier: CA894666
Community Standard Title: NM_002303.6(LEPR):c.849+49A>G
Gene: LEPR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.65596642A>G , CM000663.2:g.65596642A>G GRCh38
NC_000001.10:g.66062325A>G , CM000663.1:g.66062325A>G GRCh37
NC_000001.9:g.65834913A>G NCBI36
NG_015831.2:g.181078A>G , LRG_283:g.181078A>G

Transcript Alleles

HGVS Amino-acid Change
NM_002303.6:c.849+49A>G MANE Select NP_002294.2:n.849+49A>G
ENST00000349533.11:c.849+49A>G MANE Select ENSP00000330393.7:n.849+49A>G
NM_001003679.3:c.849+49A>G , LRG_283t1:c.849+49A>G NP_001003679.1:n.849+49A>G
NM_001003680.3:c.849+49A>G , LRG_283t2:c.849+49A>G NP_001003680.1:n.849+49A>G
NM_001198687.1:c.849+49A>G NP_001185616.1:n.849+49A>G
NM_001198687.2:c.849+49A>G NP_001185616.1:n.849+49A>G
NM_001198688.1:c.849+49A>G , LRG_283t4:c.849+49A>G NP_001185617.1:n.849+49A>G
NM_001198689.1:c.849+49A>G NP_001185618.1:n.849+49A>G
NM_001198689.2:c.849+49A>G NP_001185618.1:n.849+49A>G
NM_002303.5:c.849+49A>G , LRG_283t3:c.849+49A>G NP_002294.2:n.849+49A>G
ENST00000344610.12:c.849+49A>G ENSP00000340884.8:n.849+49A>G
ENST00000349533.10:c.849+49A>G ENSP00000330393.6:n.849+49A>G
ENST00000371058.1:c.849+49A>G ENSP00000360097.1:n.849+49A>G
ENST00000371059.7:c.849+49A>G ENSP00000360098.3:n.849+49A>G
ENST00000371060.7:c.849+49A>G ENSP00000360099.3:n.849+49A>G
ENST00000406510.7:c.-127+24193A>G ENSP00000384025.3:n.-127+24193A>G
ENST00000462765.5:n.999+49A>G
ENST00000616738.4:c.849+49A>G ENSP00000483390.1:n.849+49A>G