Canonical Allele Identifier: CA349622139
Community Standard Title: NM_001267550.2(TTN):c.46816G>T (p.Glu15606Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178618734C>A , CM000664.2:g.178618734C>A GRCh38
NC_000002.11:g.179483461C>A , CM000664.1:g.179483461C>A GRCh37
NC_000002.10:g.179191706C>A NCBI36
NG_011618.3:g.217069G>T , LRG_391:g.217069G>T
NG_051363.1:g.100908C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.46816G>T (TTN) MANE Select NP_001254479.2:p.Glu15606Ter
ENST00000589042.5:c.46816G>T (TTN) MANE Select ENSP00000467141.1:p.Glu15606Ter
NM_001256850.1:c.41893G>T (TTN) NP_001243779.1:p.Glu13965Ter
NM_003319.4:c.19621G>T (TTN) NP_003310.4:p.Glu6541Ter
NM_133378.4:c.39112G>T (TTN) NP_596869.4:p.Glu13038Ter
NM_133432.3:c.19996G>T (TTN) NP_597676.3:p.Glu6666Ter
NM_133437.4:c.20197G>T (TTN) NP_597681.4:p.Glu6733Ter
NR_038271.1:n.1605-1019C>A (TTN-AS1)
ENST00000342175.10:c.20197G>T (TTN) ENSP00000340554.6:p.Glu6733Ter
ENST00000342175.11:c.20197G>T (TTN) ENSP00000340554.6:p.Glu6733Ter
ENST00000342992.10:c.39112G>T (TTN) ENSP00000343764.6:p.Glu13038Ter
ENST00000342992.11:c.39112G>T (TTN) ENSP00000343764.6:p.Glu13038Ter
ENST00000359218.10:c.19996G>T (TTN) ENSP00000352154.5:p.Glu6666Ter
ENST00000359218.9:c.19996G>T (TTN) ENSP00000352154.5:p.Glu6666Ter
ENST00000460472.6:c.19621G>T (TTN) ENSP00000434586.1:p.Glu6541Ter
ENST00000591111.5:c.41893G>T (TTN) ENSP00000465570.1:p.Glu13965Ter
ENST00000615779.4:c.41893G>T (TTN) ENSP00000483597.1:p.Glu13965Ter
XM_011511729.1:c.45913G>T (TTN) XP_011510031.1:p.Glu15305Ter
XM_011511730.1:c.19807G>T (TTN) XP_011510032.1:p.Glu6603Ter
XM_011511731.1:c.19666G>T (TTN) XP_011510033.1:p.Glu6556Ter
XM_017004819.1:c.45709G>T (TTN) XP_016860308.1:p.Glu15237Ter
XM_017004820.1:c.41107G>T (TTN) XP_016860309.1:p.Glu13703Ter
XM_017004821.1:c.41104G>T (TTN) XP_016860310.1:p.Glu13702Ter
XM_017004822.1:c.38146G>T (TTN) XP_016860311.1:p.Glu12716Ter
XM_017004823.1:c.19762G>T (TTN) XP_016860312.1:p.Glu6588Ter
XM_024453094.1:c.41257G>T (TTN) XP_024308862.1:p.Glu13753Ter
XM_024453095.1:c.41254G>T (TTN) XP_024308863.1:p.Glu13752Ter
XM_024453096.1:c.40687G>T (TTN) XP_024308864.1:p.Glu13563Ter
XM_024453097.1:c.38029G>T (TTN) XP_024308865.1:p.Glu12677Ter
XM_024453098.1:c.37948G>T (TTN) XP_024308866.1:p.Glu12650Ter
XM_024453099.1:c.19711G>T (TTN) XP_024308867.1:p.Glu6571Ter
XM_024453100.1:c.9565G>T (TTN) XP_024308868.1:p.Glu3189Ter