Canonical Allele Identifier: CA254953

Gene: FMR1

Linked Data

• ClinVar Variation Id: 9969
• ClinVar RCV Id: RCV000010648
• dbSNP Id: rs121434622
• MyVariant Identifiers: chrX:g.147018053T>A (hg19) ; chrX:g.147936534T>A (hg38)
• PubMed: PMID:7633450 ; PMID:8156595 ; PMID:8490650 ; PMID:9659908 ; PMID:15805463 ; PMID:18664458

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.147936534T>A , CM000685.2:g.147936534T>A	GRCh38
NC_000023.10:g.147018053T>A , CM000685.1:g.147018053T>A	GRCh37
NC_000023.9:g.146825745T>A	NCBI36
NG_007529.1:g.29545T>A
NG_007529.2:g.29544T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475038.3:c.*667T>A	ENSP00000480450.2:n.*667T>A
ENST00000492846.2:n.1011T>A
ENST00000495717.6:c.911T>A	ENSP00000481474.2:p.Ile304Asn
ENST00000616382.5:c.911T>A	ENSP00000481058.2:p.Ile304Asn
ENST00000621453.5:c.911T>A	ENSP00000479528.2:p.Ile304Asn
ENST00000621987.5:c.1051T>A	ENSP00000477839.1:n.1051T>A
ENST00000685491.1:c.911T>A	ENSP00000509963.1:p.Ile304Asn
ENST00000686086.1:c.839T>A	ENSP00000510759.1:p.Ile280Asn
ENST00000687593.1:c.911T>A	ENSP00000509270.1:p.Ile304Asn
ENST00000689517.1:c.494T>A	ENSP00000510686.1:p.Ile165Asn
ENST00000689570.1:n.1011T>A
ENST00000690137.1:c.911T>A	ENSP00000509813.1:p.Ile304Asn
ENST00000690216.1:c.911T>A	ENSP00000510631.1:p.Ile304Asn
ENST00000691111.1:c.911T>A	ENSP00000509552.1:p.Ile304Asn
ENST00000691214.1:c.911T>A	ENSP00000510362.1:p.Ile304Asn
ENST00000691793.1:n.1011T>A
ENST00000692091.1:c.*667T>A	ENSP00000509221.1:n.*667T>A
ENST00000692108.1:c.656T>A	ENSP00000508963.1:p.Ile219Asn
ENST00000693079.1:n.1469T>A
ENST00000693452.1:c.*667T>A	ENSP00000510026.1:n.*667T>A
ENST00000693512.1:c.911T>A	ENSP00000509589.1:p.Ile304Asn
ENST00000370475.9:c.911T>A MANE Select	ENSP00000359506.5:p.Ile304Asn
ENST00000643620.1:n.1391T>A
ENST00000218200.12:c.911T>A	ENSP00000218200.8:p.Ile304Asn
ENST00000370470.5:c.911T>A	ENSP00000359501.1:p.Ile304Asn
ENST00000370471.7:c.911T>A	ENSP00000359502.3:p.Ile304Asn
ENST00000370475.8:c.911T>A	ENSP00000359506.4:p.Ile304Asn
ENST00000370477.5:c.911T>A	ENSP00000359508.1:p.Ile304Asn
ENST00000439526.6:c.905T>A	ENSP00000395923.2:p.Ile302Asn
ENST00000440235.6:c.911T>A	ENSP00000413764.3:p.Ile304Asn
ENST00000475038.2:c.464T>A
ENST00000616382.4:c.911T>A	ENSP00000481058.1:p.Ile304Asn
ENST00000616614.4:c.*817T>A	ENSP00000480513.1:n.*817T>A
ENST00000620828.4:n.1630T>A
ENST00000621453.4:c.911T>A	ENSP00000479528.1:p.Ile304Asn
NM_001185075.1:c.911T>A	NP_001172004.1:p.Ile304Asn
NM_001185076.1:c.911T>A	NP_001172005.1:p.Ile304Asn
NM_001185081.1:c.911T>A	NP_001172010.1:p.Ile304Asn
NM_001185082.1:c.911T>A	NP_001172011.1:p.Ile304Asn
NM_002024.5:c.911T>A	NP_002015.1:p.Ile304Asn
NR_033699.1:n.1140T>A
NR_033700.1:n.1140T>A
NM_001185081.2:c.911T>A	NP_001172010.1:p.Ile304Asn
NM_001185082.2:c.911T>A	NP_001172011.1:p.Ile304Asn
NM_002024.6:c.911T>A MANE Select	NP_002015.1:p.Ile304Asn
NR_033699.2:n.1172T>A
NR_033700.2:n.1172T>A
NM_001185075.2:c.911T>A	NP_001172004.1:p.Ile304Asn
NM_001185076.2:c.911T>A	NP_001172005.1:p.Ile304Asn