Canonical Allele Identifier: CA349558568

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178561436T>A , CM000664.2:g.178561436T>A GRCh38
NC_000002.11:g.179426163T>A , CM000664.1:g.179426163T>A GRCh37
NC_000002.10:g.179134409T>A NCBI36
NG_011618.3:g.274367A>T , LRG_391:g.274367A>T
NG_051363.1:g.43610T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.76992A>T (TTN) ENSP00000343764.6:p.Glu25664Asp
ENST00000342175.11:c.58077A>T (TTN) ENSP00000340554.6:p.Glu19359Asp
ENST00000359218.10:c.57876A>T (TTN) ENSP00000352154.5:p.Glu19292Asp
ENST00000342175.10:c.58077A>T (TTN) ENSP00000340554.6:p.Glu19359Asp
ENST00000342992.10:c.76992A>T (TTN) ENSP00000343764.6:p.Glu25664Asp
ENST00000359218.9:c.57876A>T (TTN) ENSP00000352154.5:p.Glu19292Asp
ENST00000460472.6:c.57501A>T (TTN) ENSP00000434586.1:p.Glu19167Asp
ENST00000589042.5:c.84696A>T (TTN) MANE Select ENSP00000467141.1:p.Glu28232Asp
ENST00000591111.5:c.79773A>T (TTN) ENSP00000465570.1:p.Glu26591Asp
ENST00000615779.4:c.79773A>T (TTN) ENSP00000483597.1:p.Glu26591Asp
NM_001256850.1:c.79773A>T (TTN) NP_001243779.1:p.Glu26591Asp
NM_001267550.2:c.84696A>T (TTN) MANE Select NP_001254479.2:p.Glu28232Asp
NM_003319.4:c.57501A>T (TTN) NP_003310.4:p.Glu19167Asp
NM_133378.4:c.76992A>T (TTN) NP_596869.4:p.Glu25664Asp
NM_133432.3:c.57876A>T (TTN) NP_597676.3:p.Glu19292Asp
NM_133437.4:c.58077A>T (TTN) NP_597681.4:p.Glu19359Asp
NR_038271.1:n.447-9864T>A (TTN-AS1)
NR_038272.1:n.2043+19075T>A (TTN-AS1)
XM_011511729.1:c.83793A>T (TTN) XP_011510031.1:p.Glu27931Asp
XM_011511730.1:c.57687A>T (TTN) XP_011510032.1:p.Glu19229Asp
XM_011511731.1:c.57546A>T (TTN) XP_011510033.1:p.Glu19182Asp
XM_017004819.1:c.83589A>T (TTN) XP_016860308.1:p.Glu27863Asp
XM_017004820.1:c.78987A>T (TTN) XP_016860309.1:p.Glu26329Asp
XM_017004821.1:c.78984A>T (TTN) XP_016860310.1:p.Glu26328Asp
XM_017004822.1:c.76026A>T (TTN) XP_016860311.1:p.Glu25342Asp
XM_017004823.1:c.57642A>T (TTN) XP_016860312.1:p.Glu19214Asp
XM_024453094.1:c.79137A>T (TTN) XP_024308862.1:p.Glu26379Asp
XM_024453095.1:c.79134A>T (TTN) XP_024308863.1:p.Glu26378Asp
XM_024453096.1:c.78567A>T (TTN) XP_024308864.1:p.Glu26189Asp
XM_024453097.1:c.75909A>T (TTN) XP_024308865.1:p.Glu25303Asp
XM_024453098.1:c.75828A>T (TTN) XP_024308866.1:p.Glu25276Asp
XM_024453099.1:c.57591A>T (TTN) XP_024308867.1:p.Glu19197Asp
XM_024453100.1:c.47445A>T (TTN) XP_024308868.1:p.Glu15815Asp