Canonical Allele Identifier: CA402693480
Gene: RTTN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.70127597A>T , CM000680.2:g.70127597A>T GRCh38
NC_000018.9:g.67794833A>T , CM000680.1:g.67794833A>T GRCh37
NC_000018.8:g.65945813A>T NCBI36
NG_033104.1:g.83130T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000255674.11:c.3288T>A ENSP00000255674.7:p.Ser1096Arg
ENST00000638251.1:c.*1280T>A ENSP00000491968.1:n.*1280T>A
ENST00000638298.1:c.277T>A
ENST00000639128.1:n.834T>A
ENST00000640376.1:c.2624+761T>A ENSP00000491654.1:n.2624+761T>A
ENST00000640408.1:n.3720T>A
ENST00000640769.2:c.3288T>A MANE Select ENSP00000491507.1:p.Ser1096Arg
ENST00000640931.1:c.509T>A
ENST00000677824.1:c.783-5897T>A ENSP00000504646.1:n.783-5897T>A
ENST00000679113.1:c.510T>A ENSP00000504487.1:p.Ser170Arg
ENST00000255674.10:c.3288T>A ENSP00000255674.6:p.Ser1096Arg
ENST00000581161.5:c.*1602T>A ENSP00000462926.1:n.*1602T>A
ENST00000583043.5:c.2569T>A ENSP00000462733.1:n.2569T>A
NM_173630.3:c.3288T>A NP_775901.3:p.Ser1096Arg
XM_005266679.1:c.552T>A XP_005266736.1:p.Ser184Arg
XM_006722434.2:c.3291T>A XP_006722497.1:p.Ser1097Arg
XM_006722435.2:c.3291T>A XP_006722498.1:p.Ser1097Arg
XM_011525902.1:c.3146+761T>A XP_011524204.1:n.3146+761T>A
XM_011525903.1:c.2958-5897T>A XP_011524205.1:n.2958-5897T>A
XM_011525904.1:c.3291T>A XP_011524206.1:p.Ser1097Arg
XM_011525905.1:c.3291T>A XP_011524207.1:p.Ser1097Arg
XM_011525906.1:c.1791T>A XP_011524208.1:p.Ser597Arg
XM_011525907.1:c.3291T>A XP_011524209.1:p.Ser1097Arg
XM_011525908.1:c.3291T>A XP_011524210.1:p.Ser1097Arg
XR_430072.2:n.3329T>A
XR_935213.1:n.3329T>A
NM_001318520.1:c.552T>A NP_001305449.1:p.Ser184Arg
XM_006722434.3:c.3291T>A XP_006722497.1:p.Ser1097Arg
XM_006722435.3:c.3291T>A XP_006722498.1:p.Ser1097Arg
XM_011525902.2:c.3146+761T>A XP_011524204.1:n.3146+761T>A
XM_011525903.2:c.2958-5897T>A XP_011524205.1:n.2958-5897T>A
XM_011525904.3:c.3291T>A XP_011524206.1:p.Ser1097Arg
XM_011525905.2:c.3291T>A XP_011524207.1:p.Ser1097Arg
XM_011525906.2:c.1791T>A XP_011524208.1:p.Ser597Arg
XM_011525907.2:c.3291T>A XP_011524209.1:p.Ser1097Arg
XM_011525908.3:c.3291T>A XP_011524210.1:p.Ser1097Arg
XM_017025693.1:c.3143+761T>A XP_016881182.1:n.3143+761T>A
XM_017025694.1:c.2649T>A XP_016881183.1:p.Ser883Arg
XM_017025695.1:c.2226T>A XP_016881184.1:p.Ser742Arg
XM_017025696.1:c.1182T>A XP_016881185.1:p.Ser394Arg
XM_024451139.1:c.2511T>A XP_024306907.1:p.Ser837Arg
XM_024451140.1:c.2511T>A XP_024306908.1:p.Ser837Arg
XR_430072.3:n.3359T>A
XR_935213.2:n.3359T>A
NM_001318520.2:c.552T>A NP_001305449.1:p.Ser184Arg
NM_173630.4:c.3288T>A MANE Select NP_775901.3:p.Ser1096Arg