Canonical Allele Identifier: CA5667864
Community Standard Title: NM_016169.4(SUFU):c.1028G>T (p.Arg343Leu)
Gene: SUFU HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.102615273G>T , CM000672.2:g.102615273G>T GRCh38
NC_000010.10:g.104375030G>T , CM000672.1:g.104375030G>T GRCh37
NC_000010.9:g.104365020G>T NCBI36
NG_021338.1:g.116312G>T , LRG_521:g.116312G>T

Transcript Alleles

HGVS Amino-acid Change
NM_016169.4:c.1028G>T MANE Select NP_057253.2:p.Arg343Leu
ENST00000369902.8:c.1028G>T MANE Select ENSP00000358918.4:p.Arg343Leu
NM_001178133.1:c.1028G>T NP_001171604.1:p.Arg343Leu
NM_001178133.2:c.1028G>T NP_001171604.1:p.Arg343Leu
NM_016169.3:c.1028G>T , LRG_521t1:c.1028G>T NP_057253.2:p.Arg343Leu
ENST00000369899.6:c.1028G>T ENSP00000358915.2:p.Arg343Leu
ENST00000369902.7:c.1028G>T ENSP00000358918.3:p.Arg343Leu
ENST00000423559.2:c.1028G>T ENSP00000411597.2:p.Arg343Leu
XM_011539858.1:c.1031G>T XP_011538160.1:p.Arg344Leu
XM_011539858.3:c.1031G>T XP_011538160.1:p.Arg344Leu
XM_011539859.1:c.1031G>T XP_011538161.1:p.Arg344Leu
XM_011539860.1:c.1028G>T XP_011538162.1:p.Arg343Leu
XM_011539860.3:c.1028G>T XP_011538162.1:p.Arg343Leu
XM_011539861.1:c.1031G>T XP_011538163.1:p.Arg344Leu
XM_011539861.3:c.1031G>T XP_011538163.1:p.Arg344Leu
XM_011539862.1:c.953G>T XP_011538164.1:p.Arg318Leu
XM_011539863.1:c.857G>T XP_011538165.1:p.Arg286Leu
XM_011539863.3:c.857G>T XP_011538165.1:p.Arg286Leu
XM_011539864.1:c.1031G>T XP_011538166.1:p.Arg344Leu
XM_011539864.3:c.1031G>T XP_011538166.1:p.Arg344Leu
XM_017016323.1:c.953G>T XP_016871812.1:p.Arg318Leu