Canonical Allele Identifier: CA349535639

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178557809G>C , CM000664.2:g.178557809G>C GRCh38
NC_000002.11:g.179422536G>C , CM000664.1:g.179422536G>C GRCh37
NC_000002.10:g.179130782G>C NCBI36
NG_011618.3:g.277994C>G , LRG_391:g.277994C>G
NG_051363.1:g.39983G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.79841C>G (TTN) ENSP00000343764.6:p.Thr26614Ser
ENST00000342175.11:c.60926C>G (TTN) ENSP00000340554.6:p.Thr20309Ser
ENST00000359218.10:c.60725C>G (TTN) ENSP00000352154.5:p.Thr20242Ser
ENST00000342175.10:c.60926C>G (TTN) ENSP00000340554.6:p.Thr20309Ser
ENST00000342992.10:c.79841C>G (TTN) ENSP00000343764.6:p.Thr26614Ser
ENST00000359218.9:c.60725C>G (TTN) ENSP00000352154.5:p.Thr20242Ser
ENST00000460472.6:c.60350C>G (TTN) ENSP00000434586.1:p.Thr20117Ser
ENST00000589042.5:c.87545C>G (TTN) MANE Select ENSP00000467141.1:p.Thr29182Ser
ENST00000591111.5:c.82622C>G (TTN) ENSP00000465570.1:p.Thr27541Ser
ENST00000615779.4:c.82622C>G (TTN) ENSP00000483597.1:p.Thr27541Ser
NM_001256850.1:c.82622C>G (TTN) NP_001243779.1:p.Thr27541Ser
NM_001267550.2:c.87545C>G (TTN) MANE Select NP_001254479.2:p.Thr29182Ser
NM_003319.4:c.60350C>G (TTN) NP_003310.4:p.Thr20117Ser
NM_133378.4:c.79841C>G (TTN) NP_596869.4:p.Thr26614Ser
NM_133432.3:c.60725C>G (TTN) NP_597676.3:p.Thr20242Ser
NM_133437.4:c.60926C>G (TTN) NP_597681.4:p.Thr20309Ser
NR_038271.1:n.447-13491G>C (TTN-AS1)
NR_038272.1:n.2043+15448G>C (TTN-AS1)
XM_011511729.1:c.86642C>G (TTN) XP_011510031.1:p.Thr28881Ser
XM_011511730.1:c.60536C>G (TTN) XP_011510032.1:p.Thr20179Ser
XM_011511731.1:c.60395C>G (TTN) XP_011510033.1:p.Thr20132Ser
XM_017004819.1:c.86438C>G (TTN) XP_016860308.1:p.Thr28813Ser
XM_017004820.1:c.81836C>G (TTN) XP_016860309.1:p.Thr27279Ser
XM_017004821.1:c.81833C>G (TTN) XP_016860310.1:p.Thr27278Ser
XM_017004822.1:c.78875C>G (TTN) XP_016860311.1:p.Thr26292Ser
XM_017004823.1:c.60491C>G (TTN) XP_016860312.1:p.Thr20164Ser
XM_024453094.1:c.81986C>G (TTN) XP_024308862.1:p.Thr27329Ser
XM_024453095.1:c.81983C>G (TTN) XP_024308863.1:p.Thr27328Ser
XM_024453096.1:c.81416C>G (TTN) XP_024308864.1:p.Thr27139Ser
XM_024453097.1:c.78758C>G (TTN) XP_024308865.1:p.Thr26253Ser
XM_024453098.1:c.78677C>G (TTN) XP_024308866.1:p.Thr26226Ser
XM_024453099.1:c.60440C>G (TTN) XP_024308867.1:p.Thr20147Ser
XM_024453100.1:c.50294C>G (TTN) XP_024308868.1:p.Thr16765Ser