Canonical Allele Identifier: CA5667916
Community Standard Title: NM_016169.4(SUFU):c.1280A>G (p.His427Arg)
Gene: SUFU HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.102617412A>G , CM000672.2:g.102617412A>G GRCh38
NC_000010.10:g.104377169A>G , CM000672.1:g.104377169A>G GRCh37
NC_000010.9:g.104367159A>G NCBI36
NG_021338.1:g.118451A>G , LRG_521:g.118451A>G

Transcript Alleles

HGVS Amino-acid Change
NM_016169.4:c.1280A>G MANE Select NP_057253.2:p.His427Arg
ENST00000369902.8:c.1280A>G MANE Select ENSP00000358918.4:p.His427Arg
NM_001178133.1:c.1280A>G NP_001171604.1:p.His427Arg
NM_001178133.2:c.1280A>G NP_001171604.1:p.His427Arg
NM_016169.3:c.1280A>G , LRG_521t1:c.1280A>G NP_057253.2:p.His427Arg
ENST00000369899.6:c.1280A>G ENSP00000358915.2:p.His427Arg
ENST00000369902.7:c.1280A>G ENSP00000358918.3:p.His427Arg
ENST00000423559.2:c.1280A>G ENSP00000411597.2:p.His427Arg
XM_011539858.1:c.1283A>G XP_011538160.1:p.His428Arg
XM_011539858.3:c.1283A>G XP_011538160.1:p.His428Arg
XM_011539859.1:c.1283A>G XP_011538161.1:p.His428Arg
XM_011539860.1:c.1280A>G XP_011538162.1:p.His427Arg
XM_011539860.3:c.1280A>G XP_011538162.1:p.His427Arg
XM_011539861.1:c.1283A>G XP_011538163.1:p.His428Arg
XM_011539861.3:c.1283A>G XP_011538163.1:p.His428Arg
XM_011539862.1:c.1205A>G XP_011538164.1:p.His402Arg
XM_011539863.1:c.1109A>G XP_011538165.1:p.His370Arg
XM_011539863.3:c.1109A>G XP_011538165.1:p.His370Arg
XM_011539864.1:c.1283A>G XP_011538166.1:p.His428Arg
XM_011539864.3:c.1283A>G XP_011538166.1:p.His428Arg
XM_017016323.1:c.1205A>G XP_016871812.1:p.His402Arg