Canonical Allele Identifier: CA349633586
Community Standard Title: NM_001267550.2(TTN):c.74490G>A (p.Trp24830Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178571642C>T , CM000664.2:g.178571642C>T GRCh38
NC_000002.11:g.179436369C>T , CM000664.1:g.179436369C>T GRCh37
NC_000002.10:g.179144615C>T NCBI36
NG_011618.3:g.264161G>A , LRG_391:g.264161G>A
NG_051363.1:g.53816C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.74490G>A (TTN) MANE Select NP_001254479.2:p.Trp24830Ter
ENST00000589042.5:c.74490G>A (TTN) MANE Select ENSP00000467141.1:p.Trp24830Ter
NM_001256850.1:c.69567G>A (TTN) NP_001243779.1:p.Trp23189Ter
NM_003319.4:c.47295G>A (TTN) NP_003310.4:p.Trp15765Ter
NM_133378.4:c.66786G>A (TTN) NP_596869.4:p.Trp22262Ter
NM_133432.3:c.47670G>A (TTN) NP_597676.3:p.Trp15890Ter
NM_133437.4:c.47871G>A (TTN) NP_597681.4:p.Trp15957Ter
NR_038271.1:n.596+193C>T (TTN-AS1)
NR_038272.1:n.2044-10930C>T (TTN-AS1)
ENST00000342175.10:c.47871G>A (TTN) ENSP00000340554.6:p.Trp15957Ter
ENST00000342175.11:c.47871G>A (TTN) ENSP00000340554.6:p.Trp15957Ter
ENST00000342992.10:c.66786G>A (TTN) ENSP00000343764.6:p.Trp22262Ter
ENST00000342992.11:c.66786G>A (TTN) ENSP00000343764.6:p.Trp22262Ter
ENST00000359218.10:c.47670G>A (TTN) ENSP00000352154.5:p.Trp15890Ter
ENST00000359218.9:c.47670G>A (TTN) ENSP00000352154.5:p.Trp15890Ter
ENST00000460472.6:c.47295G>A (TTN) ENSP00000434586.1:p.Trp15765Ter
ENST00000591111.5:c.69567G>A (TTN) ENSP00000465570.1:p.Trp23189Ter
ENST00000615779.4:c.69567G>A (TTN) ENSP00000483597.1:p.Trp23189Ter
XM_011511729.1:c.73587G>A (TTN) XP_011510031.1:p.Trp24529Ter
XM_011511730.1:c.47481G>A (TTN) XP_011510032.1:p.Trp15827Ter
XM_011511731.1:c.47340G>A (TTN) XP_011510033.1:p.Trp15780Ter
XM_017004819.1:c.73383G>A (TTN) XP_016860308.1:p.Trp24461Ter
XM_017004820.1:c.68781G>A (TTN) XP_016860309.1:p.Trp22927Ter
XM_017004821.1:c.68778G>A (TTN) XP_016860310.1:p.Trp22926Ter
XM_017004822.1:c.65820G>A (TTN) XP_016860311.1:p.Trp21940Ter
XM_017004823.1:c.47436G>A (TTN) XP_016860312.1:p.Trp15812Ter
XM_024453094.1:c.68931G>A (TTN) XP_024308862.1:p.Trp22977Ter
XM_024453095.1:c.68928G>A (TTN) XP_024308863.1:p.Trp22976Ter
XM_024453096.1:c.68361G>A (TTN) XP_024308864.1:p.Trp22787Ter
XM_024453097.1:c.65703G>A (TTN) XP_024308865.1:p.Trp21901Ter
XM_024453098.1:c.65622G>A (TTN) XP_024308866.1:p.Trp21874Ter
XM_024453099.1:c.47385G>A (TTN) XP_024308867.1:p.Trp15795Ter
XM_024453100.1:c.37239G>A (TTN) XP_024308868.1:p.Trp12413Ter