Canonical Allele Identifier: CA395672349

Gene: FUS

Linked Data

• MyVariant Identifiers: chr16:g.31200512G>C (hg19) ; chr16:g.31189191G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31189191G>C , CM000678.2:g.31189191G>C	GRCh38
NC_000016.9:g.31200512G>C , CM000678.1:g.31200512G>C	GRCh37
NC_000016.8:g.31108013G>C	NCBI36
NG_012889.2:g.14060G>C , LRG_655:g.14060G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254108.12:c.901G>C MANE Select	ENSP00000254108.8:p.Val301Leu
ENST00000254108.11:c.901G>C	ENSP00000254108.7:p.Val301Leu
ENST00000380244.7:c.898G>C	ENSP00000369594.3:p.Val300Leu
ENST00000474990.5:n.195G>C
ENST00000487509.6:n.4076G>C
ENST00000564766.1:n.725G>C
ENST00000566605.5:c.*74G>C	ENSP00000455073.1:n.*74G>C
ENST00000568685.1:c.904G>C	ENSP00000455282.1:p.Val302Leu
ENST00000568901.2:n.275G>C
NM_001170634.1:c.898G>C	NP_001164105.1:p.Val300Leu
NM_001170937.1:c.889G>C	NP_001164408.1:p.Val297Leu
NM_004960.3:c.901G>C , LRG_655t1:c.901G>C	NP_004951.1:p.Val301Leu
NR_028388.2:n.971G>C
XM_005255233.3:c.286G>C	XP_005255290.1:p.Val96Leu
XM_011545781.1:c.895G>C	XP_011544083.1:p.Val299Leu
XM_011545782.1:c.286G>C	XP_011544084.1:p.Val96Leu
XM_005255233.5:c.286G>C	XP_005255290.1:p.Val96Leu
XM_011545782.2:c.286G>C	XP_011544084.1:p.Val96Leu
XM_024450221.1:c.892G>C	XP_024305989.1:p.Val298Leu
NM_004960.4:c.901G>C MANE Select	NP_004951.1:p.Val301Leu