Canonical Allele Identifier: CA349411337

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532019C>A , CM000664.2:g.178532019C>A GRCh38
NC_000002.11:g.179396746C>A , CM000664.1:g.179396746C>A GRCh37
NC_000002.10:g.179104992C>A NCBI36
NG_011618.3:g.303784G>T , LRG_391:g.303784G>T
NG_051363.1:g.14193C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96892G>T (TTN) ENSP00000343764.6:p.Glu32298Ter
ENST00000342175.11:c.77977G>T (TTN) ENSP00000340554.6:p.Glu25993Ter
ENST00000359218.10:c.77776G>T (TTN) ENSP00000352154.5:p.Glu25926Ter
ENST00000342175.10:c.77977G>T (TTN) ENSP00000340554.6:p.Glu25993Ter
ENST00000342992.10:c.96892G>T (TTN) ENSP00000343764.6:p.Glu32298Ter
ENST00000359218.9:c.77776G>T (TTN) ENSP00000352154.5:p.Glu25926Ter
ENST00000460472.6:c.77401G>T (TTN) ENSP00000434586.1:p.Glu25801Ter
ENST00000589042.5:c.104596G>T (TTN) MANE Select ENSP00000467141.1:p.Glu34866Ter
ENST00000591111.5:c.99673G>T (TTN) ENSP00000465570.1:p.Glu33225Ter
ENST00000615779.4:c.99673G>T (TTN) ENSP00000483597.1:p.Glu33225Ter
NM_001256850.1:c.99673G>T (TTN) NP_001243779.1:p.Glu33225Ter
NM_001267550.2:c.104596G>T (TTN) MANE Select NP_001254479.2:p.Glu34866Ter
NM_003319.4:c.77401G>T (TTN) NP_003310.4:p.Glu25801Ter
NM_133378.4:c.96892G>T (TTN) NP_596869.4:p.Glu32298Ter
NM_133432.3:c.77776G>T (TTN) NP_597676.3:p.Glu25926Ter
NM_133437.4:c.77977G>T (TTN) NP_597681.4:p.Glu25993Ter
NR_038271.1:n.446+8383C>A (TTN-AS1)
NR_038272.1:n.220-3713C>A (TTN-AS1)
XM_011511729.1:c.103693G>T (TTN) XP_011510031.1:p.Glu34565Ter
XM_011511730.1:c.77587G>T (TTN) XP_011510032.1:p.Glu25863Ter
XM_011511731.1:c.77446G>T (TTN) XP_011510033.1:p.Glu25816Ter
XM_017004819.1:c.103489G>T (TTN) XP_016860308.1:p.Glu34497Ter
XM_017004820.1:c.98887G>T (TTN) XP_016860309.1:p.Glu32963Ter
XM_017004821.1:c.98884G>T (TTN) XP_016860310.1:p.Glu32962Ter
XM_017004822.1:c.95926G>T (TTN) XP_016860311.1:p.Glu31976Ter
XM_017004823.1:c.77542G>T (TTN) XP_016860312.1:p.Glu25848Ter
XM_024453094.1:c.99037G>T (TTN) XP_024308862.1:p.Glu33013Ter
XM_024453095.1:c.99034G>T (TTN) XP_024308863.1:p.Glu33012Ter
XM_024453096.1:c.98467G>T (TTN) XP_024308864.1:p.Glu32823Ter
XM_024453097.1:c.95809G>T (TTN) XP_024308865.1:p.Glu31937Ter
XM_024453098.1:c.95728G>T (TTN) XP_024308866.1:p.Glu31910Ter
XM_024453099.1:c.77491G>T (TTN) XP_024308867.1:p.Glu25831Ter
XM_024453100.1:c.67345G>T (TTN) XP_024308868.1:p.Glu22449Ter