Canonical Allele Identifier: CA349411393

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532049C>A , CM000664.2:g.178532049C>A GRCh38
NC_000002.11:g.179396776C>A , CM000664.1:g.179396776C>A GRCh37
NC_000002.10:g.179105022C>A NCBI36
NG_011618.3:g.303754G>T , LRG_391:g.303754G>T
NG_051363.1:g.14223C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96862G>T (TTN) ENSP00000343764.6:p.Glu32288Ter
ENST00000342175.11:c.77947G>T (TTN) ENSP00000340554.6:p.Glu25983Ter
ENST00000359218.10:c.77746G>T (TTN) ENSP00000352154.5:p.Glu25916Ter
ENST00000342175.10:c.77947G>T (TTN) ENSP00000340554.6:p.Glu25983Ter
ENST00000342992.10:c.96862G>T (TTN) ENSP00000343764.6:p.Glu32288Ter
ENST00000359218.9:c.77746G>T (TTN) ENSP00000352154.5:p.Glu25916Ter
ENST00000460472.6:c.77371G>T (TTN) ENSP00000434586.1:p.Glu25791Ter
ENST00000589042.5:c.104566G>T (TTN) MANE Select ENSP00000467141.1:p.Glu34856Ter
ENST00000591111.5:c.99643G>T (TTN) ENSP00000465570.1:p.Glu33215Ter
ENST00000615779.4:c.99643G>T (TTN) ENSP00000483597.1:p.Glu33215Ter
NM_001256850.1:c.99643G>T (TTN) NP_001243779.1:p.Glu33215Ter
NM_001267550.2:c.104566G>T (TTN) MANE Select NP_001254479.2:p.Glu34856Ter
NM_003319.4:c.77371G>T (TTN) NP_003310.4:p.Glu25791Ter
NM_133378.4:c.96862G>T (TTN) NP_596869.4:p.Glu32288Ter
NM_133432.3:c.77746G>T (TTN) NP_597676.3:p.Glu25916Ter
NM_133437.4:c.77947G>T (TTN) NP_597681.4:p.Glu25983Ter
NR_038271.1:n.446+8413C>A (TTN-AS1)
NR_038272.1:n.220-3683C>A (TTN-AS1)
XM_011511729.1:c.103663G>T (TTN) XP_011510031.1:p.Glu34555Ter
XM_011511730.1:c.77557G>T (TTN) XP_011510032.1:p.Glu25853Ter
XM_011511731.1:c.77416G>T (TTN) XP_011510033.1:p.Glu25806Ter
XM_017004819.1:c.103459G>T (TTN) XP_016860308.1:p.Glu34487Ter
XM_017004820.1:c.98857G>T (TTN) XP_016860309.1:p.Glu32953Ter
XM_017004821.1:c.98854G>T (TTN) XP_016860310.1:p.Glu32952Ter
XM_017004822.1:c.95896G>T (TTN) XP_016860311.1:p.Glu31966Ter
XM_017004823.1:c.77512G>T (TTN) XP_016860312.1:p.Glu25838Ter
XM_024453094.1:c.99007G>T (TTN) XP_024308862.1:p.Glu33003Ter
XM_024453095.1:c.99004G>T (TTN) XP_024308863.1:p.Glu33002Ter
XM_024453096.1:c.98437G>T (TTN) XP_024308864.1:p.Glu32813Ter
XM_024453097.1:c.95779G>T (TTN) XP_024308865.1:p.Glu31927Ter
XM_024453098.1:c.95698G>T (TTN) XP_024308866.1:p.Glu31900Ter
XM_024453099.1:c.77461G>T (TTN) XP_024308867.1:p.Glu25821Ter
XM_024453100.1:c.67315G>T (TTN) XP_024308868.1:p.Glu22439Ter