Canonical Allele Identifier: CA349407195

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530590T>A , CM000664.2:g.178530590T>A GRCh38
NC_000002.11:g.179395317T>A , CM000664.1:g.179395317T>A GRCh37
NC_000002.10:g.179103563T>A NCBI36
NG_011618.3:g.305213A>T , LRG_391:g.305213A>T
NG_051363.1:g.12764T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98321A>T (TTN) ENSP00000343764.6:p.Tyr32774Phe
ENST00000342175.11:c.79406A>T (TTN) ENSP00000340554.6:p.Tyr26469Phe
ENST00000359218.10:c.79205A>T (TTN) ENSP00000352154.5:p.Tyr26402Phe
ENST00000342175.10:c.79406A>T (TTN) ENSP00000340554.6:p.Tyr26469Phe
ENST00000342992.10:c.98321A>T (TTN) ENSP00000343764.6:p.Tyr32774Phe
ENST00000359218.9:c.79205A>T (TTN) ENSP00000352154.5:p.Tyr26402Phe
ENST00000460472.6:c.78830A>T (TTN) ENSP00000434586.1:p.Tyr26277Phe
ENST00000589042.5:c.106025A>T (TTN) MANE Select ENSP00000467141.1:p.Tyr35342Phe
ENST00000591111.5:c.101102A>T (TTN) ENSP00000465570.1:p.Tyr33701Phe
ENST00000615779.4:c.101102A>T (TTN) ENSP00000483597.1:p.Tyr33701Phe
NM_001256850.1:c.101102A>T (TTN) NP_001243779.1:p.Tyr33701Phe
NM_001267550.2:c.106025A>T (TTN) MANE Select NP_001254479.2:p.Tyr35342Phe
NM_003319.4:c.78830A>T (TTN) NP_003310.4:p.Tyr26277Phe
NM_133378.4:c.98321A>T (TTN) NP_596869.4:p.Tyr32774Phe
NM_133432.3:c.79205A>T (TTN) NP_597676.3:p.Tyr26402Phe
NM_133437.4:c.79406A>T (TTN) NP_597681.4:p.Tyr26469Phe
NR_038271.1:n.446+6954T>A (TTN-AS1)
NR_038272.1:n.220-5142T>A (TTN-AS1)
XM_011511729.1:c.105122A>T (TTN) XP_011510031.1:p.Tyr35041Phe
XM_011511730.1:c.79016A>T (TTN) XP_011510032.1:p.Tyr26339Phe
XM_011511731.1:c.78875A>T (TTN) XP_011510033.1:p.Tyr26292Phe
XM_017004819.1:c.104918A>T (TTN) XP_016860308.1:p.Tyr34973Phe
XM_017004820.1:c.100316A>T (TTN) XP_016860309.1:p.Tyr33439Phe
XM_017004821.1:c.100313A>T (TTN) XP_016860310.1:p.Tyr33438Phe
XM_017004822.1:c.97355A>T (TTN) XP_016860311.1:p.Tyr32452Phe
XM_017004823.1:c.78971A>T (TTN) XP_016860312.1:p.Tyr26324Phe
XM_024453094.1:c.100466A>T (TTN) XP_024308862.1:p.Tyr33489Phe
XM_024453095.1:c.100463A>T (TTN) XP_024308863.1:p.Tyr33488Phe
XM_024453096.1:c.99896A>T (TTN) XP_024308864.1:p.Tyr33299Phe
XM_024453097.1:c.97238A>T (TTN) XP_024308865.1:p.Tyr32413Phe
XM_024453098.1:c.97157A>T (TTN) XP_024308866.1:p.Tyr32386Phe
XM_024453099.1:c.78920A>T (TTN) XP_024308867.1:p.Tyr26307Phe
XM_024453100.1:c.68774A>T (TTN) XP_024308868.1:p.Tyr22925Phe