Canonical Allele Identifier: CA8657108
Community Standard Title: NM_001130528.3(SPAG9):c.3133C>T (p.Arg1045Trp)
Gene: SPAG9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50982628G>A , CM000679.2:g.50982628G>A GRCh38
NC_000017.10:g.49059989G>A , CM000679.1:g.49059989G>A GRCh37
NC_000017.9:g.46414988G>A NCBI36
NG_029710.1:g.143238C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001130528.3:c.3133C>T MANE Select NP_001124000.1:p.Arg1045Trp
ENST00000262013.12:c.3133C>T MANE Select ENSP00000262013.7:p.Arg1045Trp
NM_001130527.2:c.3103C>T NP_001123999.1:p.Arg1035Trp
NM_001130527.3:c.3103C>T NP_001123999.1:p.Arg1035Trp
NM_001130528.2:c.3133C>T NP_001124000.1:p.Arg1045Trp
NM_001251971.1:c.2662C>T NP_001238900.1:p.Arg888Trp
NM_001251971.2:c.2662C>T NP_001238900.1:p.Arg888Trp
NM_003971.5:c.3091C>T NP_003962.3:p.Arg1031Trp
NM_003971.6:c.3091C>T NP_003962.3:p.Arg1031Trp
ENST00000262013.11:c.3133C>T ENSP00000262013.7:p.Arg1045Trp
ENST00000357122.8:c.3091C>T ENSP00000349636.4:p.Arg1031Trp
ENST00000505279.5:c.3103C>T ENSP00000426900.1:p.Arg1035Trp
ENST00000510283.5:c.2662C>T ENSP00000423165.1:p.Arg888Trp
ENST00000511312.2:n.45C>T
ENST00000513746.6:c.459-2711C>T ENSP00000423346.2:n.459-2711C>T
ENST00000618113.4:c.3106C>T ENSP00000484908.1:p.Arg1036Trp
XM_005257767.1:c.3145C>T XP_005257824.1:p.Arg1049Trp
XM_005257768.1:c.3133C>T XP_005257825.1:p.Arg1045Trp
XM_005257768.2:c.3133C>T XP_005257825.1:p.Arg1045Trp
XM_005257769.1:c.3145C>T XP_005257826.1:p.Arg1049Trp
XM_005257770.1:c.3103C>T XP_005257827.1:p.Arg1035Trp
XM_005257771.1:c.3091C>T XP_005257828.1:p.Arg1031Trp
XM_005257771.3:c.3091C>T XP_005257828.1:p.Arg1031Trp
XM_005257772.2:c.2716C>T XP_005257829.1:p.Arg906Trp
XM_005257773.2:c.2674C>T XP_005257830.1:p.Arg892Trp
XM_005257774.2:c.2662C>T XP_005257831.1:p.Arg888Trp
XM_005257774.4:c.2662C>T XP_005257831.1:p.Arg888Trp
XM_006722163.1:c.2650C>T XP_006722226.1:p.Arg884Trp
XM_017025283.2:c.2704C>T XP_016880772.1:p.Arg902Trp
XM_017025284.2:c.2704C>T XP_016880773.1:p.Arg902Trp
XM_017025285.2:c.2638C>T XP_016880774.1:p.Arg880Trp