Canonical Allele Identifier: CA644674697

Gene: FMR1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.147929940A>C , CM000685.2:g.147929940A>C	GRCh38
NC_000023.10:g.147011459A>C , CM000685.1:g.147011459A>C	GRCh37
NC_000023.9:g.146819151A>C	NCBI36
NG_007529.1:g.22951A>C
NG_007529.2:g.22950A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475038.3:c.*176-8A>C	ENSP00000480450.2:n.*176-8A>C
ENST00000492846.2:n.520-8A>C
ENST00000495717.6:c.420-8A>C	ENSP00000481474.2:n.420-8A>C
ENST00000616382.5:c.420-8A>C	ENSP00000481058.2:n.420-8A>C
ENST00000621453.5:c.420-8A>C	ENSP00000479528.2:n.420-8A>C
ENST00000621987.5:c.420-8A>C	ENSP00000477839.1:n.420-8A>C
ENST00000685491.1:c.420-8A>C	ENSP00000509963.1:n.420-8A>C
ENST00000686086.1:c.348-8A>C	ENSP00000510759.1:n.348-8A>C
ENST00000687593.1:c.420-8A>C	ENSP00000509270.1:n.420-8A>C
ENST00000689517.1:c.3-8A>C	ENSP00000510686.1:n.3-8A>C
ENST00000689570.1:n.520-8A>C
ENST00000690137.1:c.420-8A>C	ENSP00000509813.1:n.420-8A>C
ENST00000690216.1:c.420-8A>C	ENSP00000510631.1:n.420-8A>C
ENST00000691111.1:c.420-8A>C	ENSP00000509552.1:n.420-8A>C
ENST00000691214.1:c.420-8A>C	ENSP00000510362.1:n.420-8A>C
ENST00000691793.1:n.520-8A>C
ENST00000692091.1:c.*176-8A>C	ENSP00000509221.1:n.*176-8A>C
ENST00000692108.1:c.165-8A>C	ENSP00000508963.1:n.165-8A>C
ENST00000693079.1:n.978-8A>C
ENST00000693452.1:c.*176-8A>C	ENSP00000510026.1:n.*176-8A>C
ENST00000693512.1:c.420-8A>C	ENSP00000509589.1:n.420-8A>C
ENST00000370475.9:c.420-8A>C MANE Select	ENSP00000359506.5:n.420-8A>C
ENST00000643620.1:n.808-8A>C
ENST00000218200.12:c.420-8A>C	ENSP00000218200.8:n.420-8A>C
ENST00000334557.10:c.420-8A>C	ENSP00000355115.4:n.420-8A>C
ENST00000370470.5:c.420-8A>C	ENSP00000359501.1:n.420-8A>C
ENST00000370471.7:c.420-8A>C	ENSP00000359502.3:n.420-8A>C
ENST00000370475.8:c.420-8A>C	ENSP00000359506.4:n.420-8A>C
ENST00000370477.5:c.420-8A>C	ENSP00000359508.1:n.420-8A>C
ENST00000439526.6:c.420-8A>C	ENSP00000395923.2:n.420-8A>C
ENST00000440235.6:c.420-8A>C	ENSP00000413764.3:n.420-8A>C
ENST00000495717.5:c.348-8A>C	ENSP00000481474.1:n.348-8A>C
ENST00000616382.4:c.420-8A>C	ENSP00000481058.1:n.420-8A>C
ENST00000616614.4:c.*326-8A>C	ENSP00000480513.1:n.*326-8A>C
ENST00000620828.4:n.1139-8A>C
ENST00000621453.4:c.420-8A>C	ENSP00000479528.1:n.420-8A>C
ENST00000621987.4:c.420-8A>C	ENSP00000477839.1:n.420-8A>C
NM_001185075.1:c.420-8A>C	NP_001172004.1:n.420-8A>C
NM_001185076.1:c.420-8A>C	NP_001172005.1:n.420-8A>C
NM_001185081.1:c.420-8A>C	NP_001172010.1:n.420-8A>C
NM_001185082.1:c.420-8A>C	NP_001172011.1:n.420-8A>C
NM_002024.5:c.420-8A>C	NP_002015.1:n.420-8A>C
NR_033699.1:n.649-8A>C
NR_033700.1:n.649-8A>C
NM_001185081.2:c.420-8A>C	NP_001172010.1:n.420-8A>C
NM_001185082.2:c.420-8A>C	NP_001172011.1:n.420-8A>C
NM_002024.6:c.420-8A>C MANE Select	NP_002015.1:n.420-8A>C
NR_033699.2:n.681-8A>C
NR_033700.2:n.681-8A>C
NM_001185075.2:c.420-8A>C	NP_001172004.1:n.420-8A>C
NM_001185076.2:c.420-8A>C	NP_001172005.1:n.420-8A>C