Canonical Allele Identifier: CA10536348

Gene: FMR1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.147944977G>A , CM000685.2:g.147944977G>A	GRCh38
NC_000023.10:g.147026497G>A , CM000685.1:g.147026497G>A	GRCh37
NC_000023.9:g.146834189G>A	NCBI36
NG_007529.1:g.37989G>A
NG_007529.2:g.37987G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002024.6:c.1580G>A MANE Select	NP_002015.1:p.Arg527His
ENST00000370475.9:c.1580G>A MANE Select	ENSP00000359506.5:p.Arg527His
NM_001185075.1:c.1309G>A	NP_001172004.1:p.Ala437Thr
NM_001185075.2:c.1309G>A	NP_001172004.1:p.Ala437Thr
NM_001185076.1:c.1517G>A	NP_001172005.1:p.Arg506His
NM_001185076.2:c.1517G>A	NP_001172005.1:p.Arg506His
NM_001185081.1:c.1246G>A	NP_001172010.1:p.Ala416Thr
NM_001185081.2:c.1246G>A	NP_001172010.1:p.Ala416Thr
NM_001185082.1:c.1442G>A	NP_001172011.1:p.Arg481His
NM_001185082.2:c.1442G>A	NP_001172011.1:p.Arg481His
NM_002024.5:c.1580G>A	NP_002015.1:p.Arg527His
NR_033699.1:n.1613G>A
NR_033699.2:n.1645G>A
NR_033700.1:n.1550G>A
NR_033700.2:n.1582G>A
ENST00000218200.12:c.1517G>A	ENSP00000218200.8:p.Arg506His
ENST00000370470.5:c.1505G>A	ENSP00000359501.1:p.Arg502His
ENST00000370471.7:c.1309G>A	ENSP00000359502.3:p.Ala437Thr
ENST00000370475.8:c.1580G>A	ENSP00000359506.4:p.Arg527His
ENST00000370477.5:c.1481G>A	ENSP00000359508.1:p.Arg494His
ENST00000439526.6:c.1511G>A	ENSP00000395923.2:p.Arg504His
ENST00000440235.6:c.1442G>A	ENSP00000413764.3:p.Arg481His
ENST00000463120.2:c.191G>A	ENSP00000480886.1:p.Arg64His
ENST00000475038.3:c.*1336G>A	ENSP00000480450.2:n.*1336G>A
ENST00000478848.1:n.285G>A
ENST00000492846.2:n.3159G>A
ENST00000495717.6:c.1517G>A	ENSP00000481474.2:p.Arg506His
ENST00000616382.4:c.1239-563G>A	ENSP00000481058.1:n.1239-563G>A
ENST00000616382.5:c.1442G>A	ENSP00000481058.2:p.Arg481His
ENST00000620828.4:n.2236G>A
ENST00000621453.4:c.1382G>A	ENSP00000479528.1:p.Arg461His
ENST00000621453.5:c.1481G>A	ENSP00000479528.2:p.Arg494His
ENST00000621987.5:c.1657G>A	ENSP00000477839.1:n.1657G>A
ENST00000685491.1:c.1517G>A	ENSP00000509963.1:p.Arg506His
ENST00000686086.1:c.1445G>A	ENSP00000510759.1:p.Arg482His
ENST00000687593.1:c.1517G>A	ENSP00000509270.1:p.Arg506His
ENST00000689517.1:c.1064G>A	ENSP00000510686.1:p.Arg355His
ENST00000689570.1:n.3159G>A
ENST00000690137.1:c.1580G>A	ENSP00000509813.1:p.Arg527His
ENST00000690216.1:c.1496G>A	ENSP00000510631.1:p.Arg499His
ENST00000691111.1:c.1481G>A	ENSP00000509552.1:p.Arg494His
ENST00000691214.1:c.1442G>A	ENSP00000510362.1:p.Arg481His
ENST00000691793.1:n.3159G>A
ENST00000692091.1:c.*1258G>A	ENSP00000509221.1:n.*1258G>A
ENST00000692108.1:c.1262G>A	ENSP00000508963.1:p.Arg421His
ENST00000693079.1:n.2075G>A
ENST00000693452.1:c.*1273G>A	ENSP00000510026.1:n.*1273G>A
ENST00000693512.1:c.991-48G>A	ENSP00000509589.1:n.991-48G>A