Canonical Allele Identifier: CA471287342
Community Standard Title: NM_016169.4(SUFU):c.1419C>T (p.Ile473=)
Gene: SUFU HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.102630119C>T , CM000672.2:g.102630119C>T GRCh38
NC_000010.10:g.104389876C>T , CM000672.1:g.104389876C>T GRCh37
NC_000010.9:g.104379866C>T NCBI36
NG_021338.1:g.131158C>T , LRG_521:g.131158C>T

Transcript Alleles

HGVS Amino-acid Change
NM_016169.4:c.1419C>T MANE Select NP_057253.2:p.Ile473=
ENST00000369902.8:c.1419C>T MANE Select ENSP00000358918.4:p.Ile473=
NM_016169.3:c.1419C>T , LRG_521t1:c.1419C>T NP_057253.2:p.Ile473=
ENST00000369902.7:c.1419C>T ENSP00000358918.3:p.Ile473=
XM_011539858.1:c.1548C>T XP_011538160.1:p.Ile516=
XM_011539858.3:c.1548C>T XP_011538160.1:p.Ile516=
XM_011539859.1:c.1548C>T XP_011538161.1:p.Ile516=
XM_011539860.1:c.1545C>T XP_011538162.1:p.Ile515=
XM_011539860.3:c.1545C>T XP_011538162.1:p.Ile515=
XM_011539861.1:c.1422C>T XP_011538163.1:p.Ile474=
XM_011539861.3:c.1422C>T XP_011538163.1:p.Ile474=
XM_011539862.1:c.1470C>T XP_011538164.1:p.Ile490=
XM_011539863.1:c.1374C>T XP_011538165.1:p.Ile458=
XM_011539863.3:c.1374C>T XP_011538165.1:p.Ile458=
XM_017016323.1:c.1470C>T XP_016871812.1:p.Ile490=