Canonical Allele Identifier: CA395677385

Gene: FUS

Linked Data

• gnomAD v3: 16-31191412-C-A
• gnomAD v4: 16-31191412-C-A
• MyVariant Identifiers: chr16:g.31202733C>A (hg19) ; chr16:g.31191412C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31191412C>A , CM000678.2:g.31191412C>A	GRCh38
NC_000016.9:g.31202733C>A , CM000678.1:g.31202733C>A	GRCh37
NC_000016.8:g.31110234C>A	NCBI36
NG_012889.2:g.16281C>A , LRG_655:g.16281C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000254108.12:c.1555C>A MANE Select	ENSP00000254108.8:p.Gln519Lys
ENST00000254108.11:c.1555C>A	ENSP00000254108.7:p.Gln519Lys
ENST00000380244.7:c.1552C>A	ENSP00000369594.3:p.Gln518Lys
ENST00000483853.1:n.632C>A
ENST00000487509.6:n.4730C>A
ENST00000566605.5:c.*728C>A	ENSP00000455073.1:n.*728C>A
ENST00000568685.1:c.1558C>A	ENSP00000455282.1:p.Gln520Lys
ENST00000569760.5:n.446C>A
NM_001170634.1:c.1552C>A	NP_001164105.1:p.Gln518Lys
NM_001170937.1:c.1543C>A	NP_001164408.1:p.Gln515Lys
NM_004960.3:c.1555C>A , LRG_655t1:c.1555C>A	NP_004951.1:p.Gln519Lys
NR_028388.2:n.1625C>A
XM_005255233.3:c.940C>A	XP_005255290.1:p.Gln314Lys
XM_011545781.1:c.1549C>A	XP_011544083.1:p.Gln517Lys
XM_011545782.1:c.940C>A	XP_011544084.1:p.Gln314Lys
XM_005255233.5:c.940C>A	XP_005255290.1:p.Gln314Lys
XM_011545782.2:c.940C>A	XP_011544084.1:p.Gln314Lys
XM_024450221.1:c.1546C>A	XP_024305989.1:p.Gln516Lys
NM_004960.4:c.1555C>A MANE Select	NP_004951.1:p.Gln519Lys