Canonical Allele Identifier: CA349539579
Community Standard Title: NM_001267550.2(TTN):c.55636G>T (p.Glu18546Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178601361C>A , CM000664.2:g.178601361C>A GRCh38
NC_000002.11:g.179466088C>A , CM000664.1:g.179466088C>A GRCh37
NC_000002.10:g.179174333C>A NCBI36
NG_011618.3:g.234442G>T , LRG_391:g.234442G>T
NG_051363.1:g.83535C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.55636G>T (TTN) MANE Select NP_001254479.2:p.Glu18546Ter
ENST00000589042.5:c.55636G>T (TTN) MANE Select ENSP00000467141.1:p.Glu18546Ter
NM_001256850.1:c.50713G>T (TTN) NP_001243779.1:p.Glu16905Ter
NM_003319.4:c.28441G>T (TTN) NP_003310.4:p.Glu9481Ter
NM_133378.4:c.47932G>T (TTN) NP_596869.4:p.Glu15978Ter
NM_133432.3:c.28816G>T (TTN) NP_597676.3:p.Glu9606Ter
NM_133437.4:c.29017G>T (TTN) NP_597681.4:p.Glu9673Ter
NR_038271.1:n.682+3680C>A (TTN-AS1)
NR_038272.1:n.3917+694C>A (TTN-AS1)
ENST00000342175.10:c.29017G>T (TTN) ENSP00000340554.6:p.Glu9673Ter
ENST00000342175.11:c.29017G>T (TTN) ENSP00000340554.6:p.Glu9673Ter
ENST00000342992.10:c.47932G>T (TTN) ENSP00000343764.6:p.Glu15978Ter
ENST00000342992.11:c.47932G>T (TTN) ENSP00000343764.6:p.Glu15978Ter
ENST00000359218.10:c.28816G>T (TTN) ENSP00000352154.5:p.Glu9606Ter
ENST00000359218.9:c.28816G>T (TTN) ENSP00000352154.5:p.Glu9606Ter
ENST00000460472.6:c.28441G>T (TTN) ENSP00000434586.1:p.Glu9481Ter
ENST00000591111.5:c.50713G>T (TTN) ENSP00000465570.1:p.Glu16905Ter
ENST00000615779.4:c.50713G>T (TTN) ENSP00000483597.1:p.Glu16905Ter
XM_011511729.1:c.54733G>T (TTN) XP_011510031.1:p.Glu18245Ter
XM_011511730.1:c.28627G>T (TTN) XP_011510032.1:p.Glu9543Ter
XM_011511731.1:c.28486G>T (TTN) XP_011510033.1:p.Glu9496Ter
XM_017004819.1:c.54529G>T (TTN) XP_016860308.1:p.Glu18177Ter
XM_017004820.1:c.49927G>T (TTN) XP_016860309.1:p.Glu16643Ter
XM_017004821.1:c.49924G>T (TTN) XP_016860310.1:p.Glu16642Ter
XM_017004822.1:c.46966G>T (TTN) XP_016860311.1:p.Glu15656Ter
XM_017004823.1:c.28582G>T (TTN) XP_016860312.1:p.Glu9528Ter
XM_024453094.1:c.50077G>T (TTN) XP_024308862.1:p.Glu16693Ter
XM_024453095.1:c.50074G>T (TTN) XP_024308863.1:p.Glu16692Ter
XM_024453096.1:c.49507G>T (TTN) XP_024308864.1:p.Glu16503Ter
XM_024453097.1:c.46849G>T (TTN) XP_024308865.1:p.Glu15617Ter
XM_024453098.1:c.46768G>T (TTN) XP_024308866.1:p.Glu15590Ter
XM_024453099.1:c.28531G>T (TTN) XP_024308867.1:p.Glu9511Ter
XM_024453100.1:c.18385G>T (TTN) XP_024308868.1:p.Glu6129Ter