Canonical Allele Identifier: CA8023969
Community Standard Title: NM_004960.4(FUS):c.1171C>G (p.Pro391Ala)
Gene: FUS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.31190277C>G , CM000678.2:g.31190277C>G GRCh38
NC_000016.9:g.31201598C>G , CM000678.1:g.31201598C>G GRCh37
NC_000016.8:g.31109099C>G NCBI36
NG_012889.2:g.15146C>G , LRG_655:g.15146C>G

Transcript Alleles

HGVS Amino-acid Change
NM_004960.4:c.1171C>G MANE Select NP_004951.1:p.Pro391Ala
ENST00000254108.12:c.1171C>G MANE Select ENSP00000254108.8:p.Pro391Ala
NM_001170634.1:c.1168C>G NP_001164105.1:p.Pro390Ala
NM_001170937.1:c.1159C>G NP_001164408.1:p.Pro387Ala
NM_004960.3:c.1171C>G , LRG_655t1:c.1171C>G NP_004951.1:p.Pro391Ala
NR_028388.2:n.1241C>G
ENST00000254108.11:c.1171C>G ENSP00000254108.7:p.Pro391Ala
ENST00000380244.7:c.1168C>G ENSP00000369594.3:p.Pro390Ala
ENST00000474990.5:n.465C>G
ENST00000487509.6:n.4346C>G
ENST00000566605.5:c.*344C>G ENSP00000455073.1:n.*344C>G
ENST00000568685.1:c.1174C>G ENSP00000455282.1:p.Pro392Ala
ENST00000569760.5:n.62C>G
XM_005255233.3:c.556C>G XP_005255290.1:p.Pro186Ala
XM_005255233.5:c.556C>G XP_005255290.1:p.Pro186Ala
XM_011545781.1:c.1165C>G XP_011544083.1:p.Pro389Ala
XM_011545782.1:c.556C>G XP_011544084.1:p.Pro186Ala
XM_011545782.2:c.556C>G XP_011544084.1:p.Pro186Ala
XM_024450221.1:c.1162C>G XP_024305989.1:p.Pro388Ala