Canonical Allele Identifier: CA212266200
Community Standard Title: NM_016169.4(SUFU):c.682A>G (p.Ile228Val)
Gene: SUFU HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.102593720A>G , CM000672.2:g.102593720A>G GRCh38
NC_000010.10:g.104353477A>G , CM000672.1:g.104353477A>G GRCh37
NC_000010.9:g.104343467A>G NCBI36
NG_021338.1:g.94759A>G , LRG_521:g.94759A>G

Transcript Alleles

HGVS Amino-acid Change
NM_016169.4:c.682A>G MANE Select NP_057253.2:p.Ile228Val
ENST00000369902.8:c.682A>G MANE Select ENSP00000358918.4:p.Ile228Val
NM_001178133.1:c.682A>G NP_001171604.1:p.Ile228Val
NM_001178133.2:c.682A>G NP_001171604.1:p.Ile228Val
NM_016169.3:c.682A>G , LRG_521t1:c.682A>G NP_057253.2:p.Ile228Val
ENST00000369899.6:c.682A>G ENSP00000358915.2:p.Ile228Val
ENST00000369902.7:c.682A>G ENSP00000358918.3:p.Ile228Val
ENST00000423559.2:c.682A>G ENSP00000411597.2:p.Ile228Val
ENST00000471000.1:n.464A>G
XM_011539858.1:c.682A>G XP_011538160.1:p.Ile228Val
XM_011539858.3:c.682A>G XP_011538160.1:p.Ile228Val
XM_011539859.1:c.682A>G XP_011538161.1:p.Ile228Val
XM_011539860.1:c.682A>G XP_011538162.1:p.Ile228Val
XM_011539860.3:c.682A>G XP_011538162.1:p.Ile228Val
XM_011539861.1:c.682A>G XP_011538163.1:p.Ile228Val
XM_011539861.3:c.682A>G XP_011538163.1:p.Ile228Val
XM_011539862.1:c.604A>G XP_011538164.1:p.Ile202Val
XM_011539863.1:c.508A>G XP_011538165.1:p.Ile170Val
XM_011539863.3:c.508A>G XP_011538165.1:p.Ile170Val
XM_011539864.1:c.682A>G XP_011538166.1:p.Ile228Val
XM_011539864.3:c.682A>G XP_011538166.1:p.Ile228Val
XM_017016323.1:c.604A>G XP_016871812.1:p.Ile202Val