Canonical Allele Identifier: CA349456170

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544327T>A , CM000664.2:g.178544327T>A GRCh38
NC_000002.11:g.179409054T>A , CM000664.1:g.179409054T>A GRCh37
NC_000002.10:g.179117300T>A NCBI36
NG_011618.3:g.291476A>T , LRG_391:g.291476A>T
NG_051363.1:g.26501T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.88198A>T (TTN) ENSP00000343764.6:p.Thr29400Ser
ENST00000342175.11:c.69283A>T (TTN) ENSP00000340554.6:p.Thr23095Ser
ENST00000359218.10:c.69082A>T (TTN) ENSP00000352154.5:p.Thr23028Ser
ENST00000342175.10:c.69283A>T (TTN) ENSP00000340554.6:p.Thr23095Ser
ENST00000342992.10:c.88198A>T (TTN) ENSP00000343764.6:p.Thr29400Ser
ENST00000359218.9:c.69082A>T (TTN) ENSP00000352154.5:p.Thr23028Ser
ENST00000460472.6:c.68707A>T (TTN) ENSP00000434586.1:p.Thr22903Ser
ENST00000589042.5:c.95902A>T (TTN) MANE Select ENSP00000467141.1:p.Thr31968Ser
ENST00000591111.5:c.90979A>T (TTN) ENSP00000465570.1:p.Thr30327Ser
ENST00000615779.4:c.90979A>T (TTN) ENSP00000483597.1:p.Thr30327Ser
NM_001256850.1:c.90979A>T (TTN) NP_001243779.1:p.Thr30327Ser
NM_001267550.2:c.95902A>T (TTN) MANE Select NP_001254479.2:p.Thr31968Ser
NM_003319.4:c.68707A>T (TTN) NP_003310.4:p.Thr22903Ser
NM_133378.4:c.88198A>T (TTN) NP_596869.4:p.Thr29400Ser
NM_133432.3:c.69082A>T (TTN) NP_597676.3:p.Thr23028Ser
NM_133437.4:c.69283A>T (TTN) NP_597681.4:p.Thr23095Ser
NR_038271.1:n.446+20691T>A (TTN-AS1)
NR_038272.1:n.2043+1966T>A (TTN-AS1)
XM_011511729.1:c.94999A>T (TTN) XP_011510031.1:p.Thr31667Ser
XM_011511730.1:c.68893A>T (TTN) XP_011510032.1:p.Thr22965Ser
XM_011511731.1:c.68752A>T (TTN) XP_011510033.1:p.Thr22918Ser
XM_017004819.1:c.94795A>T (TTN) XP_016860308.1:p.Thr31599Ser
XM_017004820.1:c.90193A>T (TTN) XP_016860309.1:p.Thr30065Ser
XM_017004821.1:c.90190A>T (TTN) XP_016860310.1:p.Thr30064Ser
XM_017004822.1:c.87232A>T (TTN) XP_016860311.1:p.Thr29078Ser
XM_017004823.1:c.68848A>T (TTN) XP_016860312.1:p.Thr22950Ser
XM_024453094.1:c.90343A>T (TTN) XP_024308862.1:p.Thr30115Ser
XM_024453095.1:c.90340A>T (TTN) XP_024308863.1:p.Thr30114Ser
XM_024453096.1:c.89773A>T (TTN) XP_024308864.1:p.Thr29925Ser
XM_024453097.1:c.87115A>T (TTN) XP_024308865.1:p.Thr29039Ser
XM_024453098.1:c.87034A>T (TTN) XP_024308866.1:p.Thr29012Ser
XM_024453099.1:c.68797A>T (TTN) XP_024308867.1:p.Thr22933Ser
XM_024453100.1:c.58651A>T (TTN) XP_024308868.1:p.Thr19551Ser