Canonical Allele Identifier: CA5667833
Community Standard Title: NM_016169.4(SUFU):c.1005C>T (p.Leu335=)
Gene: SUFU HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.102599527C>T , CM000672.2:g.102599527C>T GRCh38
NC_000010.10:g.104359284C>T , CM000672.1:g.104359284C>T GRCh37
NC_000010.9:g.104349274C>T NCBI36
NG_021338.1:g.100566C>T , LRG_521:g.100566C>T

Transcript Alleles

HGVS Amino-acid Change
NM_016169.4:c.1005C>T MANE Select NP_057253.2:p.Leu335=
ENST00000369902.8:c.1005C>T MANE Select ENSP00000358918.4:p.Leu335=
NM_001178133.1:c.1005C>T NP_001171604.1:p.Leu335=
NM_001178133.2:c.1005C>T NP_001171604.1:p.Leu335=
NM_016169.3:c.1005C>T , LRG_521t1:c.1005C>T NP_057253.2:p.Leu335=
ENST00000369899.6:c.1005C>T ENSP00000358915.2:p.Leu335=
ENST00000369902.7:c.1005C>T ENSP00000358918.3:p.Leu335=
ENST00000423559.2:c.1005C>T ENSP00000411597.2:p.Leu335=
ENST00000471000.1:n.787C>T
XM_011539858.1:c.1008C>T XP_011538160.1:p.Leu336=
XM_011539858.3:c.1008C>T XP_011538160.1:p.Leu336=
XM_011539859.1:c.1008C>T XP_011538161.1:p.Leu336=
XM_011539860.1:c.1005C>T XP_011538162.1:p.Leu335=
XM_011539860.3:c.1005C>T XP_011538162.1:p.Leu335=
XM_011539861.1:c.1008C>T XP_011538163.1:p.Leu336=
XM_011539861.3:c.1008C>T XP_011538163.1:p.Leu336=
XM_011539862.1:c.930C>T XP_011538164.1:p.Leu310=
XM_011539863.1:c.834C>T XP_011538165.1:p.Leu278=
XM_011539863.3:c.834C>T XP_011538165.1:p.Leu278=
XM_011539864.1:c.1008C>T XP_011538166.1:p.Leu336=
XM_011539864.3:c.1008C>T XP_011538166.1:p.Leu336=
XM_017016323.1:c.930C>T XP_016871812.1:p.Leu310=