Canonical Allele Identifier: CA395677477

Gene: FUS

Linked Data

• ClinVar Variation Id: 2018615
• ClinVar RCV Id: RCV002862117
• MyVariant Identifiers: chr16:g.31202744G>C (hg19) ; chr16:g.31191423G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31191423G>C , CM000678.2:g.31191423G>C	GRCh38
NC_000016.9:g.31202744G>C , CM000678.1:g.31202744G>C	GRCh37
NC_000016.8:g.31110245G>C	NCBI36
NG_012889.2:g.16292G>C , LRG_655:g.16292G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000254108.12:c.1566G>C MANE Select	ENSP00000254108.8:p.Arg522Ser
ENST00000254108.11:c.1566G>C	ENSP00000254108.7:p.Arg522Ser
ENST00000380244.7:c.1563G>C	ENSP00000369594.3:p.Arg521Ser
ENST00000483853.1:n.643G>C
ENST00000487509.6:n.4741G>C
ENST00000566605.5:c.*739G>C	ENSP00000455073.1:n.*739G>C
ENST00000568685.1:c.1569G>C	ENSP00000455282.1:p.Arg523Ser
ENST00000569760.5:n.457G>C
NM_001170634.1:c.1563G>C	NP_001164105.1:p.Arg521Ser
NM_001170937.1:c.1554G>C	NP_001164408.1:p.Arg518Ser
NM_004960.3:c.1566G>C , LRG_655t1:c.1566G>C	NP_004951.1:p.Arg522Ser
NR_028388.2:n.1636G>C
XM_005255233.3:c.951G>C	XP_005255290.1:p.Arg317Ser
XM_011545781.1:c.1560G>C	XP_011544083.1:p.Arg520Ser
XM_011545782.1:c.951G>C	XP_011544084.1:p.Arg317Ser
XM_005255233.5:c.951G>C	XP_005255290.1:p.Arg317Ser
XM_011545782.2:c.951G>C	XP_011544084.1:p.Arg317Ser
XM_024450221.1:c.1557G>C	XP_024305989.1:p.Arg519Ser
NM_004960.4:c.1566G>C MANE Select	NP_004951.1:p.Arg522Ser