Canonical Allele Identifier: CA60977857
Community Standard Title: NM_001267550.2(TTN):c.90195T>A (p.Tyr30065Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178552705A>T , CM000664.2:g.178552705A>T GRCh38
NC_000002.11:g.179417432A>T , CM000664.1:g.179417432A>T GRCh37
NC_000002.10:g.179125678A>T NCBI36
NG_011618.3:g.283098T>A , LRG_391:g.283098T>A
NG_051363.1:g.34879A>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.90195T>A (TTN) MANE Select NP_001254479.2:p.Tyr30065Ter
ENST00000589042.5:c.90195T>A (TTN) MANE Select ENSP00000467141.1:p.Tyr30065Ter
NM_001256850.1:c.85272T>A (TTN) NP_001243779.1:p.Tyr28424Ter
NM_003319.4:c.63000T>A (TTN) NP_003310.4:p.Tyr21000Ter
NM_133378.4:c.82491T>A (TTN) NP_596869.4:p.Tyr27497Ter
NM_133432.3:c.63375T>A (TTN) NP_597676.3:p.Tyr21125Ter
NM_133437.4:c.63576T>A (TTN) NP_597681.4:p.Tyr21192Ter
NR_038271.1:n.447-18595A>T (TTN-AS1)
NR_038272.1:n.2043+10344A>T (TTN-AS1)
ENST00000342175.10:c.63576T>A (TTN) ENSP00000340554.6:p.Tyr21192Ter
ENST00000342175.11:c.63576T>A (TTN) ENSP00000340554.6:p.Tyr21192Ter
ENST00000342992.10:c.82491T>A (TTN) ENSP00000343764.6:p.Tyr27497Ter
ENST00000342992.11:c.82491T>A (TTN) ENSP00000343764.6:p.Tyr27497Ter
ENST00000359218.10:c.63375T>A (TTN) ENSP00000352154.5:p.Tyr21125Ter
ENST00000359218.9:c.63375T>A (TTN) ENSP00000352154.5:p.Tyr21125Ter
ENST00000460472.6:c.63000T>A (TTN) ENSP00000434586.1:p.Tyr21000Ter
ENST00000591111.5:c.85272T>A (TTN) ENSP00000465570.1:p.Tyr28424Ter
ENST00000615779.4:c.85272T>A (TTN) ENSP00000483597.1:p.Tyr28424Ter
XM_011511729.1:c.89292T>A (TTN) XP_011510031.1:p.Tyr29764Ter
XM_011511730.1:c.63186T>A (TTN) XP_011510032.1:p.Tyr21062Ter
XM_011511731.1:c.63045T>A (TTN) XP_011510033.1:p.Tyr21015Ter
XM_017004819.1:c.89088T>A (TTN) XP_016860308.1:p.Tyr29696Ter
XM_017004820.1:c.84486T>A (TTN) XP_016860309.1:p.Tyr28162Ter
XM_017004821.1:c.84483T>A (TTN) XP_016860310.1:p.Tyr28161Ter
XM_017004822.1:c.81525T>A (TTN) XP_016860311.1:p.Tyr27175Ter
XM_017004823.1:c.63141T>A (TTN) XP_016860312.1:p.Tyr21047Ter
XM_024453094.1:c.84636T>A (TTN) XP_024308862.1:p.Tyr28212Ter
XM_024453095.1:c.84633T>A (TTN) XP_024308863.1:p.Tyr28211Ter
XM_024453096.1:c.84066T>A (TTN) XP_024308864.1:p.Tyr28022Ter
XM_024453097.1:c.81408T>A (TTN) XP_024308865.1:p.Tyr27136Ter
XM_024453098.1:c.81327T>A (TTN) XP_024308866.1:p.Tyr27109Ter
XM_024453099.1:c.63090T>A (TTN) XP_024308867.1:p.Tyr21030Ter
XM_024453100.1:c.52944T>A (TTN) XP_024308868.1:p.Tyr17648Ter