Canonical Allele Identifier: CA349411905

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532253T>A , CM000664.2:g.178532253T>A GRCh38
NC_000002.11:g.179396980T>A , CM000664.1:g.179396980T>A GRCh37
NC_000002.10:g.179105226T>A NCBI36
NG_011618.3:g.303550A>T , LRG_391:g.303550A>T
NG_051363.1:g.14427T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96658A>T (TTN) ENSP00000343764.6:p.Ser32220Cys
ENST00000342175.11:c.77743A>T (TTN) ENSP00000340554.6:p.Ser25915Cys
ENST00000359218.10:c.77542A>T (TTN) ENSP00000352154.5:p.Ser25848Cys
ENST00000342175.10:c.77743A>T (TTN) ENSP00000340554.6:p.Ser25915Cys
ENST00000342992.10:c.96658A>T (TTN) ENSP00000343764.6:p.Ser32220Cys
ENST00000359218.9:c.77542A>T (TTN) ENSP00000352154.5:p.Ser25848Cys
ENST00000460472.6:c.77167A>T (TTN) ENSP00000434586.1:p.Ser25723Cys
ENST00000589042.5:c.104362A>T (TTN) MANE Select ENSP00000467141.1:p.Ser34788Cys
ENST00000591111.5:c.99439A>T (TTN) ENSP00000465570.1:p.Ser33147Cys
ENST00000615779.4:c.99439A>T (TTN) ENSP00000483597.1:p.Ser33147Cys
NM_001256850.1:c.99439A>T (TTN) NP_001243779.1:p.Ser33147Cys
NM_001267550.2:c.104362A>T (TTN) MANE Select NP_001254479.2:p.Ser34788Cys
NM_003319.4:c.77167A>T (TTN) NP_003310.4:p.Ser25723Cys
NM_133378.4:c.96658A>T (TTN) NP_596869.4:p.Ser32220Cys
NM_133432.3:c.77542A>T (TTN) NP_597676.3:p.Ser25848Cys
NM_133437.4:c.77743A>T (TTN) NP_597681.4:p.Ser25915Cys
NR_038271.1:n.446+8617T>A (TTN-AS1)
NR_038272.1:n.220-3479T>A (TTN-AS1)
XM_011511729.1:c.103459A>T (TTN) XP_011510031.1:p.Ser34487Cys
XM_011511730.1:c.77353A>T (TTN) XP_011510032.1:p.Ser25785Cys
XM_011511731.1:c.77212A>T (TTN) XP_011510033.1:p.Ser25738Cys
XM_017004819.1:c.103255A>T (TTN) XP_016860308.1:p.Ser34419Cys
XM_017004820.1:c.98653A>T (TTN) XP_016860309.1:p.Ser32885Cys
XM_017004821.1:c.98650A>T (TTN) XP_016860310.1:p.Ser32884Cys
XM_017004822.1:c.95692A>T (TTN) XP_016860311.1:p.Ser31898Cys
XM_017004823.1:c.77308A>T (TTN) XP_016860312.1:p.Ser25770Cys
XM_024453094.1:c.98803A>T (TTN) XP_024308862.1:p.Ser32935Cys
XM_024453095.1:c.98800A>T (TTN) XP_024308863.1:p.Ser32934Cys
XM_024453096.1:c.98233A>T (TTN) XP_024308864.1:p.Ser32745Cys
XM_024453097.1:c.95575A>T (TTN) XP_024308865.1:p.Ser31859Cys
XM_024453098.1:c.95494A>T (TTN) XP_024308866.1:p.Ser31832Cys
XM_024453099.1:c.77257A>T (TTN) XP_024308867.1:p.Ser25753Cys
XM_024453100.1:c.67111A>T (TTN) XP_024308868.1:p.Ser22371Cys