Canonical Allele Identifier: CA395676123
Community Standard Title: NM_004960.4(FUS):c.1540A>T (p.Arg514Trp)
Gene: FUS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.31191109A>T , CM000678.2:g.31191109A>T GRCh38
NC_000016.9:g.31202430A>T , CM000678.1:g.31202430A>T GRCh37
NC_000016.8:g.31109931A>T NCBI36
NG_012889.2:g.15978A>T , LRG_655:g.15978A>T

Transcript Alleles

HGVS Amino-acid Change
NM_004960.4:c.1540A>T MANE Select NP_004951.1:p.Arg514Trp
ENST00000254108.12:c.1540A>T MANE Select ENSP00000254108.8:p.Arg514Trp
NM_001170634.1:c.1537A>T NP_001164105.1:p.Arg513Trp
NM_001170937.1:c.1528A>T NP_001164408.1:p.Arg510Trp
NM_004960.3:c.1540A>T , LRG_655t1:c.1540A>T NP_004951.1:p.Arg514Trp
NR_028388.2:n.1610A>T
ENST00000254108.11:c.1540A>T ENSP00000254108.7:p.Arg514Trp
ENST00000380244.7:c.1537A>T ENSP00000369594.3:p.Arg513Trp
ENST00000483853.1:n.617A>T
ENST00000487509.6:n.4715A>T
ENST00000566605.5:c.*713A>T ENSP00000455073.1:n.*713A>T
ENST00000568685.1:c.1543A>T ENSP00000455282.1:p.Arg515Trp
ENST00000569760.5:n.431A>T
XM_005255233.3:c.925A>T XP_005255290.1:p.Arg309Trp
XM_005255233.5:c.925A>T XP_005255290.1:p.Arg309Trp
XM_011545781.1:c.1534A>T XP_011544083.1:p.Arg512Trp
XM_011545782.1:c.925A>T XP_011544084.1:p.Arg309Trp
XM_011545782.2:c.925A>T XP_011544084.1:p.Arg309Trp
XM_024450221.1:c.1531A>T XP_024305989.1:p.Arg511Trp