Canonical Allele Identifier: CA349621781

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178570546T>A , CM000664.2:g.178570546T>A GRCh38
NC_000002.11:g.179435273T>A , CM000664.1:g.179435273T>A GRCh37
NC_000002.10:g.179143519T>A NCBI36
NG_011618.3:g.265257A>T , LRG_391:g.265257A>T
NG_051363.1:g.52720T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.67882A>T (TTN) ENSP00000343764.6:p.Thr22628Ser
ENST00000342175.11:c.48967A>T (TTN) ENSP00000340554.6:p.Thr16323Ser
ENST00000359218.10:c.48766A>T (TTN) ENSP00000352154.5:p.Thr16256Ser
ENST00000342175.10:c.48967A>T (TTN) ENSP00000340554.6:p.Thr16323Ser
ENST00000342992.10:c.67882A>T (TTN) ENSP00000343764.6:p.Thr22628Ser
ENST00000359218.9:c.48766A>T (TTN) ENSP00000352154.5:p.Thr16256Ser
ENST00000460472.6:c.48391A>T (TTN) ENSP00000434586.1:p.Thr16131Ser
ENST00000589042.5:c.75586A>T (TTN) MANE Select ENSP00000467141.1:p.Thr25196Ser
ENST00000591111.5:c.70663A>T (TTN) ENSP00000465570.1:p.Thr23555Ser
ENST00000615779.4:c.70663A>T (TTN) ENSP00000483597.1:p.Thr23555Ser
NM_001256850.1:c.70663A>T (TTN) NP_001243779.1:p.Thr23555Ser
NM_001267550.2:c.75586A>T (TTN) MANE Select NP_001254479.2:p.Thr25196Ser
NM_003319.4:c.48391A>T (TTN) NP_003310.4:p.Thr16131Ser
NM_133378.4:c.67882A>T (TTN) NP_596869.4:p.Thr22628Ser
NM_133432.3:c.48766A>T (TTN) NP_597676.3:p.Thr16256Ser
NM_133437.4:c.48967A>T (TTN) NP_597681.4:p.Thr16323Ser
NR_038271.1:n.447-754T>A (TTN-AS1)
NR_038272.1:n.2044-12026T>A (TTN-AS1)
XM_011511729.1:c.74683A>T (TTN) XP_011510031.1:p.Thr24895Ser
XM_011511730.1:c.48577A>T (TTN) XP_011510032.1:p.Thr16193Ser
XM_011511731.1:c.48436A>T (TTN) XP_011510033.1:p.Thr16146Ser
XM_017004819.1:c.74479A>T (TTN) XP_016860308.1:p.Thr24827Ser
XM_017004820.1:c.69877A>T (TTN) XP_016860309.1:p.Thr23293Ser
XM_017004821.1:c.69874A>T (TTN) XP_016860310.1:p.Thr23292Ser
XM_017004822.1:c.66916A>T (TTN) XP_016860311.1:p.Thr22306Ser
XM_017004823.1:c.48532A>T (TTN) XP_016860312.1:p.Thr16178Ser
XM_024453094.1:c.70027A>T (TTN) XP_024308862.1:p.Thr23343Ser
XM_024453095.1:c.70024A>T (TTN) XP_024308863.1:p.Thr23342Ser
XM_024453096.1:c.69457A>T (TTN) XP_024308864.1:p.Thr23153Ser
XM_024453097.1:c.66799A>T (TTN) XP_024308865.1:p.Thr22267Ser
XM_024453098.1:c.66718A>T (TTN) XP_024308866.1:p.Thr22240Ser
XM_024453099.1:c.48481A>T (TTN) XP_024308867.1:p.Thr16161Ser
XM_024453100.1:c.38335A>T (TTN) XP_024308868.1:p.Thr12779Ser