Canonical Allele Identifier: CA349411861

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532234G>T , CM000664.2:g.178532234G>T GRCh38
NC_000002.11:g.179396961G>T , CM000664.1:g.179396961G>T GRCh37
NC_000002.10:g.179105207G>T NCBI36
NG_011618.3:g.303569C>A , LRG_391:g.303569C>A
NG_051363.1:g.14408G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96677C>A (TTN) ENSP00000343764.6:p.Ser32226Ter
ENST00000342175.11:c.77762C>A (TTN) ENSP00000340554.6:p.Ser25921Ter
ENST00000359218.10:c.77561C>A (TTN) ENSP00000352154.5:p.Ser25854Ter
ENST00000342175.10:c.77762C>A (TTN) ENSP00000340554.6:p.Ser25921Ter
ENST00000342992.10:c.96677C>A (TTN) ENSP00000343764.6:p.Ser32226Ter
ENST00000359218.9:c.77561C>A (TTN) ENSP00000352154.5:p.Ser25854Ter
ENST00000460472.6:c.77186C>A (TTN) ENSP00000434586.1:p.Ser25729Ter
ENST00000589042.5:c.104381C>A (TTN) MANE Select ENSP00000467141.1:p.Ser34794Ter
ENST00000591111.5:c.99458C>A (TTN) ENSP00000465570.1:p.Ser33153Ter
ENST00000615779.4:c.99458C>A (TTN) ENSP00000483597.1:p.Ser33153Ter
NM_001256850.1:c.99458C>A (TTN) NP_001243779.1:p.Ser33153Ter
NM_001267550.2:c.104381C>A (TTN) MANE Select NP_001254479.2:p.Ser34794Ter
NM_003319.4:c.77186C>A (TTN) NP_003310.4:p.Ser25729Ter
NM_133378.4:c.96677C>A (TTN) NP_596869.4:p.Ser32226Ter
NM_133432.3:c.77561C>A (TTN) NP_597676.3:p.Ser25854Ter
NM_133437.4:c.77762C>A (TTN) NP_597681.4:p.Ser25921Ter
NR_038271.1:n.446+8598G>T (TTN-AS1)
NR_038272.1:n.220-3498G>T (TTN-AS1)
XM_011511729.1:c.103478C>A (TTN) XP_011510031.1:p.Ser34493Ter
XM_011511730.1:c.77372C>A (TTN) XP_011510032.1:p.Ser25791Ter
XM_011511731.1:c.77231C>A (TTN) XP_011510033.1:p.Ser25744Ter
XM_017004819.1:c.103274C>A (TTN) XP_016860308.1:p.Ser34425Ter
XM_017004820.1:c.98672C>A (TTN) XP_016860309.1:p.Ser32891Ter
XM_017004821.1:c.98669C>A (TTN) XP_016860310.1:p.Ser32890Ter
XM_017004822.1:c.95711C>A (TTN) XP_016860311.1:p.Ser31904Ter
XM_017004823.1:c.77327C>A (TTN) XP_016860312.1:p.Ser25776Ter
XM_024453094.1:c.98822C>A (TTN) XP_024308862.1:p.Ser32941Ter
XM_024453095.1:c.98819C>A (TTN) XP_024308863.1:p.Ser32940Ter
XM_024453096.1:c.98252C>A (TTN) XP_024308864.1:p.Ser32751Ter
XM_024453097.1:c.95594C>A (TTN) XP_024308865.1:p.Ser31865Ter
XM_024453098.1:c.95513C>A (TTN) XP_024308866.1:p.Ser31838Ter
XM_024453099.1:c.77276C>A (TTN) XP_024308867.1:p.Ser25759Ter
XM_024453100.1:c.67130C>A (TTN) XP_024308868.1:p.Ser22377Ter