Canonical Allele Identifier: CA349426883

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178537064T>A , CM000664.2:g.178537064T>A GRCh38
NC_000002.11:g.179401791T>A , CM000664.1:g.179401791T>A GRCh37
NC_000002.10:g.179110037T>A NCBI36
NG_011618.3:g.298739A>T , LRG_391:g.298739A>T
NG_051363.1:g.19238T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.92341A>T (TTN) ENSP00000343764.6:p.Thr30781Ser
ENST00000342175.11:c.73426A>T (TTN) ENSP00000340554.6:p.Thr24476Ser
ENST00000359218.10:c.73225A>T (TTN) ENSP00000352154.5:p.Thr24409Ser
ENST00000342175.10:c.73426A>T (TTN) ENSP00000340554.6:p.Thr24476Ser
ENST00000342992.10:c.92341A>T (TTN) ENSP00000343764.6:p.Thr30781Ser
ENST00000359218.9:c.73225A>T (TTN) ENSP00000352154.5:p.Thr24409Ser
ENST00000460472.6:c.72850A>T (TTN) ENSP00000434586.1:p.Thr24284Ser
ENST00000589042.5:c.100045A>T (TTN) MANE Select ENSP00000467141.1:p.Thr33349Ser
ENST00000591111.5:c.95122A>T (TTN) ENSP00000465570.1:p.Thr31708Ser
ENST00000615779.4:c.95122A>T (TTN) ENSP00000483597.1:p.Thr31708Ser
NM_001256850.1:c.95122A>T (TTN) NP_001243779.1:p.Thr31708Ser
NM_001267550.2:c.100045A>T (TTN) MANE Select NP_001254479.2:p.Thr33349Ser
NM_003319.4:c.72850A>T (TTN) NP_003310.4:p.Thr24284Ser
NM_133378.4:c.92341A>T (TTN) NP_596869.4:p.Thr30781Ser
NM_133432.3:c.73225A>T (TTN) NP_597676.3:p.Thr24409Ser
NM_133437.4:c.73426A>T (TTN) NP_597681.4:p.Thr24476Ser
NR_038271.1:n.446+13428T>A (TTN-AS1)
NR_038272.1:n.317-297T>A (TTN-AS1)
XM_011511729.1:c.99142A>T (TTN) XP_011510031.1:p.Thr33048Ser
XM_011511730.1:c.73036A>T (TTN) XP_011510032.1:p.Thr24346Ser
XM_011511731.1:c.72895A>T (TTN) XP_011510033.1:p.Thr24299Ser
XM_017004819.1:c.98938A>T (TTN) XP_016860308.1:p.Thr32980Ser
XM_017004820.1:c.94336A>T (TTN) XP_016860309.1:p.Thr31446Ser
XM_017004821.1:c.94333A>T (TTN) XP_016860310.1:p.Thr31445Ser
XM_017004822.1:c.91375A>T (TTN) XP_016860311.1:p.Thr30459Ser
XM_017004823.1:c.72991A>T (TTN) XP_016860312.1:p.Thr24331Ser
XM_024453094.1:c.94486A>T (TTN) XP_024308862.1:p.Thr31496Ser
XM_024453095.1:c.94483A>T (TTN) XP_024308863.1:p.Thr31495Ser
XM_024453096.1:c.93916A>T (TTN) XP_024308864.1:p.Thr31306Ser
XM_024453097.1:c.91258A>T (TTN) XP_024308865.1:p.Thr30420Ser
XM_024453098.1:c.91177A>T (TTN) XP_024308866.1:p.Thr30393Ser
XM_024453099.1:c.72940A>T (TTN) XP_024308867.1:p.Thr24314Ser
XM_024453100.1:c.62794A>T (TTN) XP_024308868.1:p.Thr20932Ser