Canonical Allele Identifier: CA377888414
Gene: SUFU HGNC NCBI
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.102509203A>C , CM000672.2:g.102509203A>C GRCh38
NC_000010.10:g.104268960A>C , CM000672.1:g.104268960A>C GRCh37
NC_000010.9:g.104258950A>C NCBI36
NG_021338.1:g.10242A>C , LRG_521:g.10242A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000369902.8:c.217A>C MANE Select ENSP00000358918.4:p.Met73Leu
ENST00000369899.6:c.217A>C ENSP00000358915.2:p.Met73Leu
ENST00000369902.7:c.217A>C ENSP00000358918.3:p.Met73Leu
ENST00000423559.2:c.217A>C ENSP00000411597.2:p.Met73Leu
NM_001178133.1:c.217A>C NP_001171604.1:p.Met73Leu
NM_016169.3:c.217A>C , LRG_521t1:c.217A>C NP_057253.2:p.Met73Leu
XM_011539858.1:c.217A>C XP_011538160.1:p.Met73Leu
XM_011539859.1:c.217A>C XP_011538161.1:p.Met73Leu
XM_011539860.1:c.217A>C XP_011538162.1:p.Met73Leu
XM_011539861.1:c.217A>C XP_011538163.1:p.Met73Leu
XM_011539862.1:c.139A>C XP_011538164.1:p.Met47Leu
XM_011539863.1:c.43A>C XP_011538165.1:p.Met15Leu
XM_011539864.1:c.217A>C XP_011538166.1:p.Met73Leu
XM_011539858.3:c.217A>C XP_011538160.1:p.Met73Leu
XM_011539860.3:c.217A>C XP_011538162.1:p.Met73Leu
XM_011539861.3:c.217A>C XP_011538163.1:p.Met73Leu
XM_011539863.3:c.43A>C XP_011538165.1:p.Met15Leu
XM_011539864.3:c.217A>C XP_011538166.1:p.Met73Leu
XM_017016323.1:c.139A>C XP_016871812.1:p.Met47Leu
NM_001178133.2:c.217A>C NP_001171604.1:p.Met73Leu
NM_016169.4:c.217A>C MANE Select NP_057253.2:p.Met73Leu