Canonical Allele Identifier: CA349602915

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178567687T>A , CM000664.2:g.178567687T>A GRCh38
NC_000002.11:g.179432414T>A , CM000664.1:g.179432414T>A GRCh37
NC_000002.10:g.179140660T>A NCBI36
NG_011618.3:g.268116A>T , LRG_391:g.268116A>T
NG_051363.1:g.49861T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.70741A>T (TTN) ENSP00000343764.6:p.Thr23581Ser
ENST00000342175.11:c.51826A>T (TTN) ENSP00000340554.6:p.Thr17276Ser
ENST00000359218.10:c.51625A>T (TTN) ENSP00000352154.5:p.Thr17209Ser
ENST00000342175.10:c.51826A>T (TTN) ENSP00000340554.6:p.Thr17276Ser
ENST00000342992.10:c.70741A>T (TTN) ENSP00000343764.6:p.Thr23581Ser
ENST00000359218.9:c.51625A>T (TTN) ENSP00000352154.5:p.Thr17209Ser
ENST00000460472.6:c.51250A>T (TTN) ENSP00000434586.1:p.Thr17084Ser
ENST00000589042.5:c.78445A>T (TTN) MANE Select ENSP00000467141.1:p.Thr26149Ser
ENST00000591111.5:c.73522A>T (TTN) ENSP00000465570.1:p.Thr24508Ser
ENST00000615779.4:c.73522A>T (TTN) ENSP00000483597.1:p.Thr24508Ser
NM_001256850.1:c.73522A>T (TTN) NP_001243779.1:p.Thr24508Ser
NM_001267550.2:c.78445A>T (TTN) MANE Select NP_001254479.2:p.Thr26149Ser
NM_003319.4:c.51250A>T (TTN) NP_003310.4:p.Thr17084Ser
NM_133378.4:c.70741A>T (TTN) NP_596869.4:p.Thr23581Ser
NM_133432.3:c.51625A>T (TTN) NP_597676.3:p.Thr17209Ser
NM_133437.4:c.51826A>T (TTN) NP_597681.4:p.Thr17276Ser
NR_038271.1:n.447-3613T>A (TTN-AS1)
NR_038272.1:n.2044-14885T>A (TTN-AS1)
XM_011511729.1:c.77542A>T (TTN) XP_011510031.1:p.Thr25848Ser
XM_011511730.1:c.51436A>T (TTN) XP_011510032.1:p.Thr17146Ser
XM_011511731.1:c.51295A>T (TTN) XP_011510033.1:p.Thr17099Ser
XM_017004819.1:c.77338A>T (TTN) XP_016860308.1:p.Thr25780Ser
XM_017004820.1:c.72736A>T (TTN) XP_016860309.1:p.Thr24246Ser
XM_017004821.1:c.72733A>T (TTN) XP_016860310.1:p.Thr24245Ser
XM_017004822.1:c.69775A>T (TTN) XP_016860311.1:p.Thr23259Ser
XM_017004823.1:c.51391A>T (TTN) XP_016860312.1:p.Thr17131Ser
XM_024453094.1:c.72886A>T (TTN) XP_024308862.1:p.Thr24296Ser
XM_024453095.1:c.72883A>T (TTN) XP_024308863.1:p.Thr24295Ser
XM_024453096.1:c.72316A>T (TTN) XP_024308864.1:p.Thr24106Ser
XM_024453097.1:c.69658A>T (TTN) XP_024308865.1:p.Thr23220Ser
XM_024453098.1:c.69577A>T (TTN) XP_024308866.1:p.Thr23193Ser
XM_024453099.1:c.51340A>T (TTN) XP_024308867.1:p.Thr17114Ser
XM_024453100.1:c.41194A>T (TTN) XP_024308868.1:p.Thr13732Ser