Canonical Allele Identifier: CA8023971
Community Standard Title: NM_004960.4(FUS):c.1176G>A (p.Met392Ile)
Gene: FUS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.31190282G>A , CM000678.2:g.31190282G>A GRCh38
NC_000016.9:g.31201603G>A , CM000678.1:g.31201603G>A GRCh37
NC_000016.8:g.31109104G>A NCBI36
NG_012889.2:g.15151G>A , LRG_655:g.15151G>A

Transcript Alleles

HGVS Amino-acid Change
NM_004960.4:c.1176G>A MANE Select NP_004951.1:p.Met392Ile
ENST00000254108.12:c.1176G>A MANE Select ENSP00000254108.8:p.Met392Ile
NM_001170634.1:c.1173G>A NP_001164105.1:p.Met391Ile
NM_001170937.1:c.1164G>A NP_001164408.1:p.Met388Ile
NM_004960.3:c.1176G>A , LRG_655t1:c.1176G>A NP_004951.1:p.Met392Ile
NR_028388.2:n.1246G>A
ENST00000254108.11:c.1176G>A ENSP00000254108.7:p.Met392Ile
ENST00000380244.7:c.1173G>A ENSP00000369594.3:p.Met391Ile
ENST00000474990.5:n.470G>A
ENST00000487509.6:n.4351G>A
ENST00000566605.5:c.*349G>A ENSP00000455073.1:n.*349G>A
ENST00000568685.1:c.1179G>A ENSP00000455282.1:p.Met393Ile
ENST00000569760.5:n.67G>A
XM_005255233.3:c.561G>A XP_005255290.1:p.Met187Ile
XM_005255233.5:c.561G>A XP_005255290.1:p.Met187Ile
XM_011545781.1:c.1170G>A XP_011544083.1:p.Met390Ile
XM_011545782.1:c.561G>A XP_011544084.1:p.Met187Ile
XM_011545782.2:c.561G>A XP_011544084.1:p.Met187Ile
XM_024450221.1:c.1167G>A XP_024305989.1:p.Met389Ile