Canonical Allele Identifier: CA395677399

Gene: FUS

Linked Data

• ClinVar Variation Id: 2498660
• ClinVar RCV Id: RCV003222869
• MyVariant Identifiers: chr16:g.31202734A>G (hg19) ; chr16:g.31191413A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31191413A>G , CM000678.2:g.31191413A>G	GRCh38
NC_000016.9:g.31202734A>G , CM000678.1:g.31202734A>G	GRCh37
NC_000016.8:g.31110235A>G	NCBI36
NG_012889.2:g.16282A>G , LRG_655:g.16282A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000254108.12:c.1556A>G MANE Select	ENSP00000254108.8:p.Gln519Arg
ENST00000254108.11:c.1556A>G	ENSP00000254108.7:p.Gln519Arg
ENST00000380244.7:c.1553A>G	ENSP00000369594.3:p.Gln518Arg
ENST00000483853.1:n.633A>G
ENST00000487509.6:n.4731A>G
ENST00000566605.5:c.*729A>G	ENSP00000455073.1:n.*729A>G
ENST00000568685.1:c.1559A>G	ENSP00000455282.1:p.Gln520Arg
ENST00000569760.5:n.447A>G
NM_001170634.1:c.1553A>G	NP_001164105.1:p.Gln518Arg
NM_001170937.1:c.1544A>G	NP_001164408.1:p.Gln515Arg
NM_004960.3:c.1556A>G , LRG_655t1:c.1556A>G	NP_004951.1:p.Gln519Arg
NR_028388.2:n.1626A>G
XM_005255233.3:c.941A>G	XP_005255290.1:p.Gln314Arg
XM_011545781.1:c.1550A>G	XP_011544083.1:p.Gln517Arg
XM_011545782.1:c.941A>G	XP_011544084.1:p.Gln314Arg
XM_005255233.5:c.941A>G	XP_005255290.1:p.Gln314Arg
XM_011545782.2:c.941A>G	XP_011544084.1:p.Gln314Arg
XM_024450221.1:c.1547A>G	XP_024305989.1:p.Gln516Arg
NM_004960.4:c.1556A>G MANE Select	NP_004951.1:p.Gln519Arg