Canonical Allele Identifier: CA349423849
Community Standard Title: NM_001267550.2(TTN):c.67397C>A (p.Ser22466Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178579800G>T , CM000664.2:g.178579800G>T GRCh38
NC_000002.11:g.179444527G>T , CM000664.1:g.179444527G>T GRCh37
NC_000002.10:g.179152773G>T NCBI36
NG_011618.3:g.256003C>A , LRG_391:g.256003C>A
NG_051363.1:g.61974G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.67397C>A (TTN) MANE Select NP_001254479.2:p.Ser22466Ter
ENST00000589042.5:c.67397C>A (TTN) MANE Select ENSP00000467141.1:p.Ser22466Ter
NM_001256850.1:c.62474C>A (TTN) NP_001243779.1:p.Ser20825Ter
NM_003319.4:c.40202C>A (TTN) NP_003310.4:p.Ser13401Ter
NM_133378.4:c.59693C>A (TTN) NP_596869.4:p.Ser19898Ter
NM_133432.3:c.40577C>A (TTN) NP_597676.3:p.Ser13526Ter
NM_133437.4:c.40778C>A (TTN) NP_597681.4:p.Ser13593Ter
NR_038271.1:n.596+8351G>T (TTN-AS1)
NR_038272.1:n.2044-2772G>T (TTN-AS1)
ENST00000342175.10:c.40778C>A (TTN) ENSP00000340554.6:p.Ser13593Ter
ENST00000342175.11:c.40778C>A (TTN) ENSP00000340554.6:p.Ser13593Ter
ENST00000342992.10:c.59693C>A (TTN) ENSP00000343764.6:p.Ser19898Ter
ENST00000342992.11:c.59693C>A (TTN) ENSP00000343764.6:p.Ser19898Ter
ENST00000359218.10:c.40577C>A (TTN) ENSP00000352154.5:p.Ser13526Ter
ENST00000359218.9:c.40577C>A (TTN) ENSP00000352154.5:p.Ser13526Ter
ENST00000460472.6:c.40202C>A (TTN) ENSP00000434586.1:p.Ser13401Ter
ENST00000591111.5:c.62474C>A (TTN) ENSP00000465570.1:p.Ser20825Ter
ENST00000615779.4:c.62474C>A (TTN) ENSP00000483597.1:p.Ser20825Ter
XM_011511729.1:c.66494C>A (TTN) XP_011510031.1:p.Ser22165Ter
XM_011511730.1:c.40388C>A (TTN) XP_011510032.1:p.Ser13463Ter
XM_011511731.1:c.40247C>A (TTN) XP_011510033.1:p.Ser13416Ter
XM_017004819.1:c.66290C>A (TTN) XP_016860308.1:p.Ser22097Ter
XM_017004820.1:c.61688C>A (TTN) XP_016860309.1:p.Ser20563Ter
XM_017004821.1:c.61685C>A (TTN) XP_016860310.1:p.Ser20562Ter
XM_017004822.1:c.58727C>A (TTN) XP_016860311.1:p.Ser19576Ter
XM_017004823.1:c.40343C>A (TTN) XP_016860312.1:p.Ser13448Ter
XM_024453094.1:c.61838C>A (TTN) XP_024308862.1:p.Ser20613Ter
XM_024453095.1:c.61835C>A (TTN) XP_024308863.1:p.Ser20612Ter
XM_024453096.1:c.61268C>A (TTN) XP_024308864.1:p.Ser20423Ter
XM_024453097.1:c.58610C>A (TTN) XP_024308865.1:p.Ser19537Ter
XM_024453098.1:c.58529C>A (TTN) XP_024308866.1:p.Ser19510Ter
XM_024453099.1:c.40292C>A (TTN) XP_024308867.1:p.Ser13431Ter
XM_024453100.1:c.30146C>A (TTN) XP_024308868.1:p.Ser10049Ter