Canonical Allele Identifier: CA349411804

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532211T>A , CM000664.2:g.178532211T>A GRCh38
NC_000002.11:g.179396938T>A , CM000664.1:g.179396938T>A GRCh37
NC_000002.10:g.179105184T>A NCBI36
NG_011618.3:g.303592A>T , LRG_391:g.303592A>T
NG_051363.1:g.14385T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96700A>T (TTN) ENSP00000343764.6:p.Lys32234Ter
ENST00000342175.11:c.77785A>T (TTN) ENSP00000340554.6:p.Lys25929Ter
ENST00000359218.10:c.77584A>T (TTN) ENSP00000352154.5:p.Lys25862Ter
ENST00000342175.10:c.77785A>T (TTN) ENSP00000340554.6:p.Lys25929Ter
ENST00000342992.10:c.96700A>T (TTN) ENSP00000343764.6:p.Lys32234Ter
ENST00000359218.9:c.77584A>T (TTN) ENSP00000352154.5:p.Lys25862Ter
ENST00000460472.6:c.77209A>T (TTN) ENSP00000434586.1:p.Lys25737Ter
ENST00000589042.5:c.104404A>T (TTN) MANE Select ENSP00000467141.1:p.Lys34802Ter
ENST00000591111.5:c.99481A>T (TTN) ENSP00000465570.1:p.Lys33161Ter
ENST00000615779.4:c.99481A>T (TTN) ENSP00000483597.1:p.Lys33161Ter
NM_001256850.1:c.99481A>T (TTN) NP_001243779.1:p.Lys33161Ter
NM_001267550.2:c.104404A>T (TTN) MANE Select NP_001254479.2:p.Lys34802Ter
NM_003319.4:c.77209A>T (TTN) NP_003310.4:p.Lys25737Ter
NM_133378.4:c.96700A>T (TTN) NP_596869.4:p.Lys32234Ter
NM_133432.3:c.77584A>T (TTN) NP_597676.3:p.Lys25862Ter
NM_133437.4:c.77785A>T (TTN) NP_597681.4:p.Lys25929Ter
NR_038271.1:n.446+8575T>A (TTN-AS1)
NR_038272.1:n.220-3521T>A (TTN-AS1)
XM_011511729.1:c.103501A>T (TTN) XP_011510031.1:p.Lys34501Ter
XM_011511730.1:c.77395A>T (TTN) XP_011510032.1:p.Lys25799Ter
XM_011511731.1:c.77254A>T (TTN) XP_011510033.1:p.Lys25752Ter
XM_017004819.1:c.103297A>T (TTN) XP_016860308.1:p.Lys34433Ter
XM_017004820.1:c.98695A>T (TTN) XP_016860309.1:p.Lys32899Ter
XM_017004821.1:c.98692A>T (TTN) XP_016860310.1:p.Lys32898Ter
XM_017004822.1:c.95734A>T (TTN) XP_016860311.1:p.Lys31912Ter
XM_017004823.1:c.77350A>T (TTN) XP_016860312.1:p.Lys25784Ter
XM_024453094.1:c.98845A>T (TTN) XP_024308862.1:p.Lys32949Ter
XM_024453095.1:c.98842A>T (TTN) XP_024308863.1:p.Lys32948Ter
XM_024453096.1:c.98275A>T (TTN) XP_024308864.1:p.Lys32759Ter
XM_024453097.1:c.95617A>T (TTN) XP_024308865.1:p.Lys31873Ter
XM_024453098.1:c.95536A>T (TTN) XP_024308866.1:p.Lys31846Ter
XM_024453099.1:c.77299A>T (TTN) XP_024308867.1:p.Lys25767Ter
XM_024453100.1:c.67153A>T (TTN) XP_024308868.1:p.Lys22385Ter