Canonical Allele Identifier: CA349526910
Community Standard Title: NM_001267550.2(TTN):c.56783C>A (p.Ser18928Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178598927G>T , CM000664.2:g.178598927G>T GRCh38
NC_000002.11:g.179463654G>T , CM000664.1:g.179463654G>T GRCh37
NC_000002.10:g.179171899G>T NCBI36
NG_011618.3:g.236876C>A , LRG_391:g.236876C>A
NG_051363.1:g.81101G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.56783C>A (TTN) MANE Select NP_001254479.2:p.Ser18928Ter
ENST00000589042.5:c.56783C>A (TTN) MANE Select ENSP00000467141.1:p.Ser18928Ter
NM_001256850.1:c.51860C>A (TTN) NP_001243779.1:p.Ser17287Ter
NM_003319.4:c.29588C>A (TTN) NP_003310.4:p.Ser9863Ter
NM_133378.4:c.49079C>A (TTN) NP_596869.4:p.Ser16360Ter
NM_133432.3:c.29963C>A (TTN) NP_597676.3:p.Ser9988Ter
NM_133437.4:c.30164C>A (TTN) NP_597681.4:p.Ser10055Ter
NR_038271.1:n.682+1246G>T (TTN-AS1)
NR_038272.1:n.3568+254G>T (TTN-AS1)
ENST00000342175.10:c.30164C>A (TTN) ENSP00000340554.6:p.Ser10055Ter
ENST00000342175.11:c.30164C>A (TTN) ENSP00000340554.6:p.Ser10055Ter
ENST00000342992.10:c.49079C>A (TTN) ENSP00000343764.6:p.Ser16360Ter
ENST00000342992.11:c.49079C>A (TTN) ENSP00000343764.6:p.Ser16360Ter
ENST00000359218.10:c.29963C>A (TTN) ENSP00000352154.5:p.Ser9988Ter
ENST00000359218.9:c.29963C>A (TTN) ENSP00000352154.5:p.Ser9988Ter
ENST00000460472.6:c.29588C>A (TTN) ENSP00000434586.1:p.Ser9863Ter
ENST00000591111.5:c.51860C>A (TTN) ENSP00000465570.1:p.Ser17287Ter
ENST00000615779.4:c.51860C>A (TTN) ENSP00000483597.1:p.Ser17287Ter
XM_011511729.1:c.55880C>A (TTN) XP_011510031.1:p.Ser18627Ter
XM_011511730.1:c.29774C>A (TTN) XP_011510032.1:p.Ser9925Ter
XM_011511731.1:c.29633C>A (TTN) XP_011510033.1:p.Ser9878Ter
XM_017004819.1:c.55676C>A (TTN) XP_016860308.1:p.Ser18559Ter
XM_017004820.1:c.51074C>A (TTN) XP_016860309.1:p.Ser17025Ter
XM_017004821.1:c.51071C>A (TTN) XP_016860310.1:p.Ser17024Ter
XM_017004822.1:c.48113C>A (TTN) XP_016860311.1:p.Ser16038Ter
XM_017004823.1:c.29729C>A (TTN) XP_016860312.1:p.Ser9910Ter
XM_024453094.1:c.51224C>A (TTN) XP_024308862.1:p.Ser17075Ter
XM_024453095.1:c.51221C>A (TTN) XP_024308863.1:p.Ser17074Ter
XM_024453096.1:c.50654C>A (TTN) XP_024308864.1:p.Ser16885Ter
XM_024453097.1:c.47996C>A (TTN) XP_024308865.1:p.Ser15999Ter
XM_024453098.1:c.47915C>A (TTN) XP_024308866.1:p.Ser15972Ter
XM_024453099.1:c.29678C>A (TTN) XP_024308867.1:p.Ser9893Ter
XM_024453100.1:c.19532C>A (TTN) XP_024308868.1:p.Ser6511Ter