Canonical Allele Identifier: CA349547753
Community Standard Title: NM_001267550.2(TTN):c.85818T>A (p.Tyr28606Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178560314A>T , CM000664.2:g.178560314A>T GRCh38
NC_000002.11:g.179425041A>T , CM000664.1:g.179425041A>T GRCh37
NC_000002.10:g.179133287A>T NCBI36
NG_011618.3:g.275489T>A , LRG_391:g.275489T>A
NG_051363.1:g.42488A>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.85818T>A (TTN) MANE Select NP_001254479.2:p.Tyr28606Ter
ENST00000589042.5:c.85818T>A (TTN) MANE Select ENSP00000467141.1:p.Tyr28606Ter
NM_001256850.1:c.80895T>A (TTN) NP_001243779.1:p.Tyr26965Ter
NM_003319.4:c.58623T>A (TTN) NP_003310.4:p.Tyr19541Ter
NM_133378.4:c.78114T>A (TTN) NP_596869.4:p.Tyr26038Ter
NM_133432.3:c.58998T>A (TTN) NP_597676.3:p.Tyr19666Ter
NM_133437.4:c.59199T>A (TTN) NP_597681.4:p.Tyr19733Ter
NR_038271.1:n.447-10986A>T (TTN-AS1)
NR_038272.1:n.2043+17953A>T (TTN-AS1)
ENST00000342175.10:c.59199T>A (TTN) ENSP00000340554.6:p.Tyr19733Ter
ENST00000342175.11:c.59199T>A (TTN) ENSP00000340554.6:p.Tyr19733Ter
ENST00000342992.10:c.78114T>A (TTN) ENSP00000343764.6:p.Tyr26038Ter
ENST00000342992.11:c.78114T>A (TTN) ENSP00000343764.6:p.Tyr26038Ter
ENST00000359218.10:c.58998T>A (TTN) ENSP00000352154.5:p.Tyr19666Ter
ENST00000359218.9:c.58998T>A (TTN) ENSP00000352154.5:p.Tyr19666Ter
ENST00000460472.6:c.58623T>A (TTN) ENSP00000434586.1:p.Tyr19541Ter
ENST00000591111.5:c.80895T>A (TTN) ENSP00000465570.1:p.Tyr26965Ter
ENST00000615779.4:c.80895T>A (TTN) ENSP00000483597.1:p.Tyr26965Ter
XM_011511729.1:c.84915T>A (TTN) XP_011510031.1:p.Tyr28305Ter
XM_011511730.1:c.58809T>A (TTN) XP_011510032.1:p.Tyr19603Ter
XM_011511731.1:c.58668T>A (TTN) XP_011510033.1:p.Tyr19556Ter
XM_017004819.1:c.84711T>A (TTN) XP_016860308.1:p.Tyr28237Ter
XM_017004820.1:c.80109T>A (TTN) XP_016860309.1:p.Tyr26703Ter
XM_017004821.1:c.80106T>A (TTN) XP_016860310.1:p.Tyr26702Ter
XM_017004822.1:c.77148T>A (TTN) XP_016860311.1:p.Tyr25716Ter
XM_017004823.1:c.58764T>A (TTN) XP_016860312.1:p.Tyr19588Ter
XM_024453094.1:c.80259T>A (TTN) XP_024308862.1:p.Tyr26753Ter
XM_024453095.1:c.80256T>A (TTN) XP_024308863.1:p.Tyr26752Ter
XM_024453096.1:c.79689T>A (TTN) XP_024308864.1:p.Tyr26563Ter
XM_024453097.1:c.77031T>A (TTN) XP_024308865.1:p.Tyr25677Ter
XM_024453098.1:c.76950T>A (TTN) XP_024308866.1:p.Tyr25650Ter
XM_024453099.1:c.58713T>A (TTN) XP_024308867.1:p.Tyr19571Ter
XM_024453100.1:c.48567T>A (TTN) XP_024308868.1:p.Tyr16189Ter