Canonical Allele Identifier: CA10603390

Gene: FUS

Linked Data

• ClinVar Variation Id: 280110
• ClinVar RCV Id: RCV000381069 ; RCV001069729 ; RCV001095439 ; RCV003401225
• dbSNP Id: rs886041390
• gnomAD v2: 16-31202752-C-T
• MyVariant Identifiers: chr16:g.31202752C>T (hg19) ; chr16:g.31191431C>T (hg38)
• PubMed: PMID:19251627 ; PMID:19450904 ; PMID:20579074 ; PMID:20606625 ; PMID:20668261 ; PMID:21881207 ; PMID:21907581 ; PMID:21949354 ; PMID:23056579 ; PMID:23085990 ; PMID:23881933

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31191431C>T , CM000678.2:g.31191431C>T	GRCh38
NC_000016.9:g.31202752C>T , CM000678.1:g.31202752C>T	GRCh37
NC_000016.8:g.31110253C>T	NCBI36
NG_012889.2:g.16300C>T , LRG_655:g.16300C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254108.12:c.1574C>T MANE Select	ENSP00000254108.8:p.Pro525Leu
ENST00000254108.11:c.1574C>T	ENSP00000254108.7:p.Pro525Leu
ENST00000380244.7:c.1571C>T	ENSP00000369594.3:p.Pro524Leu
ENST00000483853.1:n.651C>T
ENST00000487509.6:n.4749C>T
ENST00000566605.5:c.*747C>T	ENSP00000455073.1:n.*747C>T
ENST00000568685.1:c.1577C>T	ENSP00000455282.1:p.Pro526Leu
ENST00000569760.5:n.465C>T
NM_001170634.1:c.1571C>T	NP_001164105.1:p.Pro524Leu
NM_001170937.1:c.1562C>T	NP_001164408.1:p.Pro521Leu
NM_004960.3:c.1574C>T , LRG_655t1:c.1574C>T	NP_004951.1:p.Pro525Leu
NR_028388.2:n.1644C>T
XM_005255233.3:c.959C>T	XP_005255290.1:p.Pro320Leu
XM_011545781.1:c.1568C>T	XP_011544083.1:p.Pro523Leu
XM_011545782.1:c.959C>T	XP_011544084.1:p.Pro320Leu
XM_005255233.5:c.959C>T	XP_005255290.1:p.Pro320Leu
XM_011545782.2:c.959C>T	XP_011544084.1:p.Pro320Leu
XM_024450221.1:c.1565C>T	XP_024305989.1:p.Pro522Leu
NM_004960.4:c.1574C>T MANE Select	NP_004951.1:p.Pro525Leu