Canonical Allele Identifier: CA395676122
Community Standard Title: NM_004960.4(FUS):c.1540A>G (p.Arg514Gly)
Gene: FUS HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_004960.4:c.1540A>G MANE Select NP_004951.1:p.Arg514Gly
ENST00000254108.12:c.1540A>G MANE Select ENSP00000254108.8:p.Arg514Gly
NM_001170634.1:c.1537A>G NP_001164105.1:p.Arg513Gly
NM_001170937.1:c.1528A>G NP_001164408.1:p.Arg510Gly
NM_004960.3:c.1540A>G , LRG_655t1:c.1540A>G NP_004951.1:p.Arg514Gly
NR_028388.2:n.1610A>G
ENST00000254108.11:c.1540A>G ENSP00000254108.7:p.Arg514Gly
ENST00000380244.7:c.1537A>G ENSP00000369594.3:p.Arg513Gly
ENST00000483853.1:n.617A>G
ENST00000487509.6:n.4715A>G
ENST00000566605.5:c.*713A>G ENSP00000455073.1:n.*713A>G
ENST00000568685.1:c.1543A>G ENSP00000455282.1:p.Arg515Gly
ENST00000569760.5:n.431A>G
XM_005255233.3:c.925A>G XP_005255290.1:p.Arg309Gly
XM_005255233.5:c.925A>G XP_005255290.1:p.Arg309Gly
XM_011545781.1:c.1534A>G XP_011544083.1:p.Arg512Gly
XM_011545782.1:c.925A>G XP_011544084.1:p.Arg309Gly
XM_011545782.2:c.925A>G XP_011544084.1:p.Arg309Gly
XM_024450221.1:c.1531A>G XP_024305989.1:p.Arg511Gly