Canonical Allele Identifier: CA349436429
Community Standard Title: NM_001267550.2(TTN):c.64890C>A (p.Tyr21630Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178584751G>T , CM000664.2:g.178584751G>T GRCh38
NC_000002.11:g.179449478G>T , CM000664.1:g.179449478G>T GRCh37
NC_000002.10:g.179157724G>T NCBI36
NG_011618.3:g.251052C>A , LRG_391:g.251052C>A
NG_051363.1:g.66925G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.64890C>A (TTN) MANE Select NP_001254479.2:p.Tyr21630Ter
ENST00000589042.5:c.64890C>A (TTN) MANE Select ENSP00000467141.1:p.Tyr21630Ter
NM_001256850.1:c.59967C>A (TTN) NP_001243779.1:p.Tyr19989Ter
NM_003319.4:c.37695C>A (TTN) NP_003310.4:p.Tyr12565Ter
NM_133378.4:c.57186C>A (TTN) NP_596869.4:p.Tyr19062Ter
NM_133432.3:c.38070C>A (TTN) NP_597676.3:p.Tyr12690Ter
NM_133437.4:c.38271C>A (TTN) NP_597681.4:p.Tyr12757Ter
NR_038271.1:n.597-12845G>T (TTN-AS1)
NR_038272.1:n.2946G>T (TTN-AS1)
ENST00000342175.10:c.38271C>A (TTN) ENSP00000340554.6:p.Tyr12757Ter
ENST00000342175.11:c.38271C>A (TTN) ENSP00000340554.6:p.Tyr12757Ter
ENST00000342992.10:c.57186C>A (TTN) ENSP00000343764.6:p.Tyr19062Ter
ENST00000342992.11:c.57186C>A (TTN) ENSP00000343764.6:p.Tyr19062Ter
ENST00000359218.10:c.38070C>A (TTN) ENSP00000352154.5:p.Tyr12690Ter
ENST00000359218.9:c.38070C>A (TTN) ENSP00000352154.5:p.Tyr12690Ter
ENST00000460472.6:c.37695C>A (TTN) ENSP00000434586.1:p.Tyr12565Ter
ENST00000591111.5:c.59967C>A (TTN) ENSP00000465570.1:p.Tyr19989Ter
ENST00000615779.4:c.59967C>A (TTN) ENSP00000483597.1:p.Tyr19989Ter
XM_011511729.1:c.63987C>A (TTN) XP_011510031.1:p.Tyr21329Ter
XM_011511730.1:c.37881C>A (TTN) XP_011510032.1:p.Tyr12627Ter
XM_011511731.1:c.37740C>A (TTN) XP_011510033.1:p.Tyr12580Ter
XM_017004819.1:c.63783C>A (TTN) XP_016860308.1:p.Tyr21261Ter
XM_017004820.1:c.59181C>A (TTN) XP_016860309.1:p.Tyr19727Ter
XM_017004821.1:c.59178C>A (TTN) XP_016860310.1:p.Tyr19726Ter
XM_017004822.1:c.56220C>A (TTN) XP_016860311.1:p.Tyr18740Ter
XM_017004823.1:c.37836C>A (TTN) XP_016860312.1:p.Tyr12612Ter
XM_024453094.1:c.59331C>A (TTN) XP_024308862.1:p.Tyr19777Ter
XM_024453095.1:c.59328C>A (TTN) XP_024308863.1:p.Tyr19776Ter
XM_024453096.1:c.58761C>A (TTN) XP_024308864.1:p.Tyr19587Ter
XM_024453097.1:c.56103C>A (TTN) XP_024308865.1:p.Tyr18701Ter
XM_024453098.1:c.56022C>A (TTN) XP_024308866.1:p.Tyr18674Ter
XM_024453099.1:c.37785C>A (TTN) XP_024308867.1:p.Tyr12595Ter
XM_024453100.1:c.27639C>A (TTN) XP_024308868.1:p.Tyr9213Ter