Canonical Allele Identifier: CA5667834
Community Standard Title: NM_016169.4(SUFU):c.1006G>A (p.Ala336Thr)
Gene: SUFU HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.102599528G>A , CM000672.2:g.102599528G>A GRCh38
NC_000010.10:g.104359285G>A , CM000672.1:g.104359285G>A GRCh37
NC_000010.9:g.104349275G>A NCBI36
NG_021338.1:g.100567G>A , LRG_521:g.100567G>A

Transcript Alleles

HGVS Amino-acid Change
NM_016169.4:c.1006G>A MANE Select NP_057253.2:p.Ala336Thr
ENST00000369902.8:c.1006G>A MANE Select ENSP00000358918.4:p.Ala336Thr
NM_001178133.1:c.1006G>A NP_001171604.1:p.Ala336Thr
NM_001178133.2:c.1006G>A NP_001171604.1:p.Ala336Thr
NM_016169.3:c.1006G>A , LRG_521t1:c.1006G>A NP_057253.2:p.Ala336Thr
ENST00000369899.6:c.1006G>A ENSP00000358915.2:p.Ala336Thr
ENST00000369902.7:c.1006G>A ENSP00000358918.3:p.Ala336Thr
ENST00000423559.2:c.1006G>A ENSP00000411597.2:p.Ala336Thr
ENST00000471000.1:n.788G>A
XM_011539858.1:c.1009G>A XP_011538160.1:p.Ala337Thr
XM_011539858.3:c.1009G>A XP_011538160.1:p.Ala337Thr
XM_011539859.1:c.1009G>A XP_011538161.1:p.Ala337Thr
XM_011539860.1:c.1006G>A XP_011538162.1:p.Ala336Thr
XM_011539860.3:c.1006G>A XP_011538162.1:p.Ala336Thr
XM_011539861.1:c.1009G>A XP_011538163.1:p.Ala337Thr
XM_011539861.3:c.1009G>A XP_011538163.1:p.Ala337Thr
XM_011539862.1:c.931G>A XP_011538164.1:p.Ala311Thr
XM_011539863.1:c.835G>A XP_011538165.1:p.Ala279Thr
XM_011539863.3:c.835G>A XP_011538165.1:p.Ala279Thr
XM_011539864.1:c.1009G>A XP_011538166.1:p.Ala337Thr
XM_011539864.3:c.1009G>A XP_011538166.1:p.Ala337Thr
XM_017016323.1:c.931G>A XP_016871812.1:p.Ala311Thr