Canonical Allele Identifier: CA349422153
Community Standard Title: NM_001267550.2(TTN):c.67994G>A (p.Trp22665Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178579036C>T , CM000664.2:g.178579036C>T GRCh38
NC_000002.11:g.179443763C>T , CM000664.1:g.179443763C>T GRCh37
NC_000002.10:g.179152009C>T NCBI36
NG_011618.3:g.256767G>A , LRG_391:g.256767G>A
NG_051363.1:g.61210C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.67994G>A (TTN) MANE Select NP_001254479.2:p.Trp22665Ter
ENST00000589042.5:c.67994G>A (TTN) MANE Select ENSP00000467141.1:p.Trp22665Ter
NM_001256850.1:c.63071G>A (TTN) NP_001243779.1:p.Trp21024Ter
NM_003319.4:c.40799G>A (TTN) NP_003310.4:p.Trp13600Ter
NM_133378.4:c.60290G>A (TTN) NP_596869.4:p.Trp20097Ter
NM_133432.3:c.41174G>A (TTN) NP_597676.3:p.Trp13725Ter
NM_133437.4:c.41375G>A (TTN) NP_597681.4:p.Trp13792Ter
NR_038271.1:n.596+7587C>T (TTN-AS1)
NR_038272.1:n.2044-3536C>T (TTN-AS1)
ENST00000342175.10:c.41375G>A (TTN) ENSP00000340554.6:p.Trp13792Ter
ENST00000342175.11:c.41375G>A (TTN) ENSP00000340554.6:p.Trp13792Ter
ENST00000342992.10:c.60290G>A (TTN) ENSP00000343764.6:p.Trp20097Ter
ENST00000342992.11:c.60290G>A (TTN) ENSP00000343764.6:p.Trp20097Ter
ENST00000359218.10:c.41174G>A (TTN) ENSP00000352154.5:p.Trp13725Ter
ENST00000359218.9:c.41174G>A (TTN) ENSP00000352154.5:p.Trp13725Ter
ENST00000460472.6:c.40799G>A (TTN) ENSP00000434586.1:p.Trp13600Ter
ENST00000591111.5:c.63071G>A (TTN) ENSP00000465570.1:p.Trp21024Ter
ENST00000615779.4:c.63071G>A (TTN) ENSP00000483597.1:p.Trp21024Ter
XM_011511729.1:c.67091G>A (TTN) XP_011510031.1:p.Trp22364Ter
XM_011511730.1:c.40985G>A (TTN) XP_011510032.1:p.Trp13662Ter
XM_011511731.1:c.40844G>A (TTN) XP_011510033.1:p.Trp13615Ter
XM_017004819.1:c.66887G>A (TTN) XP_016860308.1:p.Trp22296Ter
XM_017004820.1:c.62285G>A (TTN) XP_016860309.1:p.Trp20762Ter
XM_017004821.1:c.62282G>A (TTN) XP_016860310.1:p.Trp20761Ter
XM_017004822.1:c.59324G>A (TTN) XP_016860311.1:p.Trp19775Ter
XM_017004823.1:c.40940G>A (TTN) XP_016860312.1:p.Trp13647Ter
XM_024453094.1:c.62435G>A (TTN) XP_024308862.1:p.Trp20812Ter
XM_024453095.1:c.62432G>A (TTN) XP_024308863.1:p.Trp20811Ter
XM_024453096.1:c.61865G>A (TTN) XP_024308864.1:p.Trp20622Ter
XM_024453097.1:c.59207G>A (TTN) XP_024308865.1:p.Trp19736Ter
XM_024453098.1:c.59126G>A (TTN) XP_024308866.1:p.Trp19709Ter
XM_024453099.1:c.40889G>A (TTN) XP_024308867.1:p.Trp13630Ter
XM_024453100.1:c.30743G>A (TTN) XP_024308868.1:p.Trp10248Ter