Canonical Allele Identifier: CA377911196
Community Standard Title: NM_016169.4(SUFU):c.1012G>C (p.Asp338His)
Gene: SUFU HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.102599534G>C , CM000672.2:g.102599534G>C GRCh38
NC_000010.10:g.104359291G>C , CM000672.1:g.104359291G>C GRCh37
NC_000010.9:g.104349281G>C NCBI36
NG_021338.1:g.100573G>C , LRG_521:g.100573G>C

Transcript Alleles

HGVS Amino-acid Change
NM_016169.4:c.1012G>C MANE Select NP_057253.2:p.Asp338His
ENST00000369902.8:c.1012G>C MANE Select ENSP00000358918.4:p.Asp338His
NM_001178133.1:c.1012G>C NP_001171604.1:p.Asp338His
NM_001178133.2:c.1012G>C NP_001171604.1:p.Asp338His
NM_016169.3:c.1012G>C , LRG_521t1:c.1012G>C NP_057253.2:p.Asp338His
ENST00000369899.6:c.1012G>C ENSP00000358915.2:p.Asp338His
ENST00000369902.7:c.1012G>C ENSP00000358918.3:p.Asp338His
ENST00000423559.2:c.1012G>C ENSP00000411597.2:p.Asp338His
ENST00000471000.1:n.794G>C
XM_011539858.1:c.1015G>C XP_011538160.1:p.Asp339His
XM_011539858.3:c.1015G>C XP_011538160.1:p.Asp339His
XM_011539859.1:c.1015G>C XP_011538161.1:p.Asp339His
XM_011539860.1:c.1012G>C XP_011538162.1:p.Asp338His
XM_011539860.3:c.1012G>C XP_011538162.1:p.Asp338His
XM_011539861.1:c.1015G>C XP_011538163.1:p.Asp339His
XM_011539861.3:c.1015G>C XP_011538163.1:p.Asp339His
XM_011539862.1:c.937G>C XP_011538164.1:p.Asp313His
XM_011539863.1:c.841G>C XP_011538165.1:p.Asp281His
XM_011539863.3:c.841G>C XP_011538165.1:p.Asp281His
XM_011539864.1:c.1015G>C XP_011538166.1:p.Asp339His
XM_011539864.3:c.1015G>C XP_011538166.1:p.Asp339His
XM_017016323.1:c.937G>C XP_016871812.1:p.Asp313His