Canonical Allele Identifier: CA5667602
Community Standard Title: NM_016169.4(SUFU):c.169A>G (p.Ile57Val)
Gene: SUFU HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.102504321A>G , CM000672.2:g.102504321A>G GRCh38
NC_000010.10:g.104264078A>G , CM000672.1:g.104264078A>G GRCh37
NC_000010.9:g.104254068A>G NCBI36
NG_011901.1:g.3435T>C
NG_021338.1:g.5360A>G , LRG_521:g.5360A>G

Transcript Alleles

HGVS Amino-acid Change
NM_016169.4:c.169A>G MANE Select NP_057253.2:p.Ile57Val
ENST00000369902.8:c.169A>G MANE Select ENSP00000358918.4:p.Ile57Val
NM_001178133.1:c.169A>G NP_001171604.1:p.Ile57Val
NM_001178133.2:c.169A>G NP_001171604.1:p.Ile57Val
NM_016169.3:c.169A>G , LRG_521t1:c.169A>G NP_057253.2:p.Ile57Val
ENST00000369899.6:c.169A>G ENSP00000358915.2:p.Ile57Val
ENST00000369902.7:c.169A>G ENSP00000358918.3:p.Ile57Val
ENST00000423559.2:c.169A>G ENSP00000411597.2:p.Ile57Val
XM_011539858.1:c.169A>G XP_011538160.1:p.Ile57Val
XM_011539858.3:c.169A>G XP_011538160.1:p.Ile57Val
XM_011539859.1:c.169A>G XP_011538161.1:p.Ile57Val
XM_011539860.1:c.169A>G XP_011538162.1:p.Ile57Val
XM_011539860.3:c.169A>G XP_011538162.1:p.Ile57Val
XM_011539861.1:c.169A>G XP_011538163.1:p.Ile57Val
XM_011539861.3:c.169A>G XP_011538163.1:p.Ile57Val
XM_011539862.1:c.-47A>G XP_011538164.1:n.-47A>G
XM_011539863.1:c.8+1335A>G XP_011538165.1:n.8+1335A>G
XM_011539863.3:c.8+1335A>G XP_011538165.1:n.8+1335A>G
XM_011539864.1:c.169A>G XP_011538166.1:p.Ile57Val
XM_011539864.3:c.169A>G XP_011538166.1:p.Ile57Val