Canonical Allele Identifier: CA1990873
Community Standard Title: NM_001267550.2(TTN):c.69815T>G (p.Ile23272Ser)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178576317A>C , CM000664.2:g.178576317A>C GRCh38
NC_000002.11:g.179441044A>C , CM000664.1:g.179441044A>C GRCh37
NC_000002.10:g.179149290A>C NCBI36
NG_011618.3:g.259486T>G , LRG_391:g.259486T>G
NG_051363.1:g.58491A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.69815T>G (TTN) MANE Select NP_001254479.2:p.Ile23272Ser
ENST00000589042.5:c.69815T>G (TTN) MANE Select ENSP00000467141.1:p.Ile23272Ser
NM_001256850.1:c.64892T>G (TTN) NP_001243779.1:p.Ile21631Ser
NM_003319.4:c.42620T>G (TTN) NP_003310.4:p.Ile14207Ser
NM_133378.4:c.62111T>G (TTN) NP_596869.4:p.Ile20704Ser
NM_133432.3:c.42995T>G (TTN) NP_597676.3:p.Ile14332Ser
NM_133437.4:c.43196T>G (TTN) NP_597681.4:p.Ile14399Ser
NR_038271.1:n.596+4868A>C (TTN-AS1)
NR_038272.1:n.2044-6255A>C (TTN-AS1)
ENST00000342175.10:c.43196T>G (TTN) ENSP00000340554.6:p.Ile14399Ser
ENST00000342175.11:c.43196T>G (TTN) ENSP00000340554.6:p.Ile14399Ser
ENST00000342992.10:c.62111T>G (TTN) ENSP00000343764.6:p.Ile20704Ser
ENST00000342992.11:c.62111T>G (TTN) ENSP00000343764.6:p.Ile20704Ser
ENST00000359218.10:c.42995T>G (TTN) ENSP00000352154.5:p.Ile14332Ser
ENST00000359218.9:c.42995T>G (TTN) ENSP00000352154.5:p.Ile14332Ser
ENST00000460472.6:c.42620T>G (TTN) ENSP00000434586.1:p.Ile14207Ser
ENST00000591111.5:c.64892T>G (TTN) ENSP00000465570.1:p.Ile21631Ser
ENST00000615779.4:c.64892T>G (TTN) ENSP00000483597.1:p.Ile21631Ser
XM_011511729.1:c.68912T>G (TTN) XP_011510031.1:p.Ile22971Ser
XM_011511730.1:c.42806T>G (TTN) XP_011510032.1:p.Ile14269Ser
XM_011511731.1:c.42665T>G (TTN) XP_011510033.1:p.Ile14222Ser
XM_017004819.1:c.68708T>G (TTN) XP_016860308.1:p.Ile22903Ser
XM_017004820.1:c.64106T>G (TTN) XP_016860309.1:p.Ile21369Ser
XM_017004821.1:c.64103T>G (TTN) XP_016860310.1:p.Ile21368Ser
XM_017004822.1:c.61145T>G (TTN) XP_016860311.1:p.Ile20382Ser
XM_017004823.1:c.42761T>G (TTN) XP_016860312.1:p.Ile14254Ser
XM_024453094.1:c.64256T>G (TTN) XP_024308862.1:p.Ile21419Ser
XM_024453095.1:c.64253T>G (TTN) XP_024308863.1:p.Ile21418Ser
XM_024453096.1:c.63686T>G (TTN) XP_024308864.1:p.Ile21229Ser
XM_024453097.1:c.61028T>G (TTN) XP_024308865.1:p.Ile20343Ser
XM_024453098.1:c.60947T>G (TTN) XP_024308866.1:p.Ile20316Ser
XM_024453099.1:c.42710T>G (TTN) XP_024308867.1:p.Ile14237Ser
XM_024453100.1:c.32564T>G (TTN) XP_024308868.1:p.Ile10855Ser