Canonical Allele Identifier: CA206490

Gene: FMR1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.147944969C>T , CM000685.2:g.147944969C>T	GRCh38
NC_000023.10:g.147026489C>T , CM000685.1:g.147026489C>T	GRCh37
NC_000023.9:g.146834181C>T	NCBI36
NG_007529.1:g.37981C>T
NG_007529.2:g.37979C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002024.6:c.1572C>T MANE Select	NP_002015.1:p.Ser524=
ENST00000370475.9:c.1572C>T MANE Select	ENSP00000359506.5:p.Ser524=
NM_001185075.1:c.1301C>T	NP_001172004.1:p.Ala434Val
NM_001185075.2:c.1301C>T	NP_001172004.1:p.Ala434Val
NM_001185076.1:c.1509C>T	NP_001172005.1:p.Ser503=
NM_001185076.2:c.1509C>T	NP_001172005.1:p.Ser503=
NM_001185081.1:c.1238C>T	NP_001172010.1:p.Ala413Val
NM_001185081.2:c.1238C>T	NP_001172010.1:p.Ala413Val
NM_001185082.1:c.1434C>T	NP_001172011.1:p.Ser478=
NM_001185082.2:c.1434C>T	NP_001172011.1:p.Ser478=
NM_002024.5:c.1572C>T	NP_002015.1:p.Ser524=
NR_033699.1:n.1605C>T
NR_033699.2:n.1637C>T
NR_033700.1:n.1542C>T
NR_033700.2:n.1574C>T
ENST00000218200.12:c.1509C>T	ENSP00000218200.8:p.Ser503=
ENST00000370470.5:c.1497C>T	ENSP00000359501.1:p.Ser499=
ENST00000370471.7:c.1301C>T	ENSP00000359502.3:p.Ala434Val
ENST00000370475.8:c.1572C>T	ENSP00000359506.4:p.Ser524=
ENST00000370477.5:c.1473C>T	ENSP00000359508.1:p.Ser491=
ENST00000439526.6:c.1503C>T	ENSP00000395923.2:p.Ser501=
ENST00000440235.6:c.1434C>T	ENSP00000413764.3:p.Ser478=
ENST00000463120.2:c.183C>T	ENSP00000480886.1:p.Ser61=
ENST00000475038.3:c.*1328C>T	ENSP00000480450.2:n.*1328C>T
ENST00000478848.1:n.277C>T
ENST00000492846.2:n.3151C>T
ENST00000495717.6:c.1509C>T	ENSP00000481474.2:p.Ser503=
ENST00000616382.4:c.1239-571C>T	ENSP00000481058.1:n.1239-571C>T
ENST00000616382.5:c.1434C>T	ENSP00000481058.2:p.Ser478=
ENST00000620828.4:n.2228C>T
ENST00000621453.4:c.1374C>T	ENSP00000479528.1:p.Ser458=
ENST00000621453.5:c.1473C>T	ENSP00000479528.2:p.Ser491=
ENST00000621987.5:c.1649C>T	ENSP00000477839.1:n.1649C>T
ENST00000685491.1:c.1509C>T	ENSP00000509963.1:p.Ser503=
ENST00000686086.1:c.1437C>T	ENSP00000510759.1:p.Ser479=
ENST00000687593.1:c.1509C>T	ENSP00000509270.1:p.Ser503=
ENST00000689517.1:c.1056C>T	ENSP00000510686.1:p.Ser352=
ENST00000689570.1:n.3151C>T
ENST00000690137.1:c.1572C>T	ENSP00000509813.1:p.Ser524=
ENST00000690216.1:c.1488C>T	ENSP00000510631.1:p.Ser496=
ENST00000691111.1:c.1473C>T	ENSP00000509552.1:p.Ser491=
ENST00000691214.1:c.1434C>T	ENSP00000510362.1:p.Ser478=
ENST00000691793.1:n.3151C>T
ENST00000692091.1:c.*1250C>T	ENSP00000509221.1:n.*1250C>T
ENST00000692108.1:c.1254C>T	ENSP00000508963.1:p.Ser418=
ENST00000693079.1:n.2067C>T
ENST00000693452.1:c.*1265C>T	ENSP00000510026.1:n.*1265C>T
ENST00000693512.1:c.991-56C>T	ENSP00000509589.1:n.991-56C>T