Canonical Allele Identifier: CA212242963
Community Standard Title: NM_016169.4(SUFU):c.1296+1635C>A
Gene: SUFU HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.102619063C>A , CM000672.2:g.102619063C>A GRCh38
NC_000010.10:g.104378820C>A , CM000672.1:g.104378820C>A GRCh37
NC_000010.9:g.104368810C>A NCBI36
NG_021338.1:g.120102C>A , LRG_521:g.120102C>A

Transcript Alleles

HGVS Amino-acid Change
NM_016169.4:c.1296+1635C>A MANE Select NP_057253.2:n.1296+1635C>A
ENST00000369902.8:c.1296+1635C>A MANE Select ENSP00000358918.4:n.1296+1635C>A
NM_001178133.1:c.1297-3C>A NP_001171604.1:n.1297-3C>A
NM_001178133.2:c.1297-3C>A NP_001171604.1:n.1297-3C>A
NM_016169.3:c.1296+1635C>A , LRG_521t1:c.1296+1635C>A NP_057253.2:n.1296+1635C>A
ENST00000369899.6:c.1297-3C>A ENSP00000358915.2:n.1297-3C>A
ENST00000369902.7:c.1296+1635C>A ENSP00000358918.3:n.1296+1635C>A
XM_011539858.1:c.1299+1635C>A XP_011538160.1:n.1299+1635C>A
XM_011539858.3:c.1299+1635C>A XP_011538160.1:n.1299+1635C>A
XM_011539859.1:c.1299+1635C>A XP_011538161.1:n.1299+1635C>A
XM_011539860.1:c.1296+1635C>A XP_011538162.1:n.1296+1635C>A
XM_011539860.3:c.1296+1635C>A XP_011538162.1:n.1296+1635C>A
XM_011539861.1:c.1299+1635C>A XP_011538163.1:n.1299+1635C>A
XM_011539861.3:c.1299+1635C>A XP_011538163.1:n.1299+1635C>A
XM_011539862.1:c.1221+1635C>A XP_011538164.1:n.1221+1635C>A
XM_011539863.1:c.1125+1635C>A XP_011538165.1:n.1125+1635C>A
XM_011539863.3:c.1125+1635C>A XP_011538165.1:n.1125+1635C>A
XM_011539864.1:c.1300-3C>A XP_011538166.1:n.1300-3C>A
XM_011539864.3:c.1300-3C>A XP_011538166.1:n.1300-3C>A
XM_017016323.1:c.1221+1635C>A XP_016871812.1:n.1221+1635C>A