Canonical Allele Identifier: CA257437

Gene: FUS

Linked Data

• ClinVar Variation Id: 16222
• ClinVar RCV Id: RCV000017609 ; RCV000703284 ; RCV002472932 ; RCV003421921
• dbSNP Id: rs121909668
• MyVariant Identifiers: chr16:g.31202739C>G (hg19) ; chr16:g.31191418C>G (hg38)
• PubMed: PMID:12858291 ; PMID:19251627

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31191418C>G , CM000678.2:g.31191418C>G	GRCh38
NC_000016.9:g.31202739C>G , CM000678.1:g.31202739C>G	GRCh37
NC_000016.8:g.31110240C>G	NCBI36
NG_012889.2:g.16287C>G , LRG_655:g.16287C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254108.12:c.1561C>G MANE Select	ENSP00000254108.8:p.Arg521Gly
ENST00000254108.11:c.1561C>G	ENSP00000254108.7:p.Arg521Gly
ENST00000380244.7:c.1558C>G	ENSP00000369594.3:p.Arg520Gly
ENST00000483853.1:n.638C>G
ENST00000487509.6:n.4736C>G
ENST00000566605.5:c.*734C>G	ENSP00000455073.1:n.*734C>G
ENST00000568685.1:c.1564C>G	ENSP00000455282.1:p.Arg522Gly
ENST00000569760.5:n.452C>G
NM_001170634.1:c.1558C>G	NP_001164105.1:p.Arg520Gly
NM_001170937.1:c.1549C>G	NP_001164408.1:p.Arg517Gly
NM_004960.3:c.1561C>G , LRG_655t1:c.1561C>G	NP_004951.1:p.Arg521Gly
NR_028388.2:n.1631C>G
XM_005255233.3:c.946C>G	XP_005255290.1:p.Arg316Gly
XM_011545781.1:c.1555C>G	XP_011544083.1:p.Arg519Gly
XM_011545782.1:c.946C>G	XP_011544084.1:p.Arg316Gly
XM_005255233.5:c.946C>G	XP_005255290.1:p.Arg316Gly
XM_011545782.2:c.946C>G	XP_011544084.1:p.Arg316Gly
XM_024450221.1:c.1552C>G	XP_024305989.1:p.Arg518Gly
NM_004960.4:c.1561C>G MANE Select	NP_004951.1:p.Arg521Gly