Canonical Allele Identifier: CA349619539
Community Standard Title: NM_001267550.2(TTN):c.47142T>A (p.Cys15714Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178618316A>T , CM000664.2:g.178618316A>T GRCh38
NC_000002.11:g.179483043A>T , CM000664.1:g.179483043A>T GRCh37
NC_000002.10:g.179191288A>T NCBI36
NG_011618.3:g.217487T>A , LRG_391:g.217487T>A
NG_051363.1:g.100490A>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.47142T>A (TTN) MANE Select NP_001254479.2:p.Cys15714Ter
ENST00000589042.5:c.47142T>A (TTN) MANE Select ENSP00000467141.1:p.Cys15714Ter
NM_001256850.1:c.42219T>A (TTN) NP_001243779.1:p.Cys14073Ter
NM_003319.4:c.19947T>A (TTN) NP_003310.4:p.Cys6649Ter
NM_133378.4:c.39438T>A (TTN) NP_596869.4:p.Cys13146Ter
NM_133432.3:c.20322T>A (TTN) NP_597676.3:p.Cys6774Ter
NM_133437.4:c.20523T>A (TTN) NP_597681.4:p.Cys6841Ter
NR_038271.1:n.1605-1437A>T (TTN-AS1)
ENST00000342175.10:c.20523T>A (TTN) ENSP00000340554.6:p.Cys6841Ter
ENST00000342175.11:c.20523T>A (TTN) ENSP00000340554.6:p.Cys6841Ter
ENST00000342992.10:c.39438T>A (TTN) ENSP00000343764.6:p.Cys13146Ter
ENST00000342992.11:c.39438T>A (TTN) ENSP00000343764.6:p.Cys13146Ter
ENST00000359218.10:c.20322T>A (TTN) ENSP00000352154.5:p.Cys6774Ter
ENST00000359218.9:c.20322T>A (TTN) ENSP00000352154.5:p.Cys6774Ter
ENST00000460472.6:c.19947T>A (TTN) ENSP00000434586.1:p.Cys6649Ter
ENST00000591111.5:c.42219T>A (TTN) ENSP00000465570.1:p.Cys14073Ter
ENST00000615779.4:c.42219T>A (TTN) ENSP00000483597.1:p.Cys14073Ter
XM_011511729.1:c.46239T>A (TTN) XP_011510031.1:p.Cys15413Ter
XM_011511730.1:c.20133T>A (TTN) XP_011510032.1:p.Cys6711Ter
XM_011511731.1:c.19992T>A (TTN) XP_011510033.1:p.Cys6664Ter
XM_017004819.1:c.46035T>A (TTN) XP_016860308.1:p.Cys15345Ter
XM_017004820.1:c.41433T>A (TTN) XP_016860309.1:p.Cys13811Ter
XM_017004821.1:c.41430T>A (TTN) XP_016860310.1:p.Cys13810Ter
XM_017004822.1:c.38472T>A (TTN) XP_016860311.1:p.Cys12824Ter
XM_017004823.1:c.20088T>A (TTN) XP_016860312.1:p.Cys6696Ter
XM_024453094.1:c.41583T>A (TTN) XP_024308862.1:p.Cys13861Ter
XM_024453095.1:c.41580T>A (TTN) XP_024308863.1:p.Cys13860Ter
XM_024453096.1:c.41013T>A (TTN) XP_024308864.1:p.Cys13671Ter
XM_024453097.1:c.38355T>A (TTN) XP_024308865.1:p.Cys12785Ter
XM_024453098.1:c.38274T>A (TTN) XP_024308866.1:p.Cys12758Ter
XM_024453099.1:c.20037T>A (TTN) XP_024308867.1:p.Cys6679Ter
XM_024453100.1:c.9891T>A (TTN) XP_024308868.1:p.Cys3297Ter