Canonical Allele Identifier: CA349535645

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.79841C>A (TTN) ENSP00000343764.6:p.Thr26614Asn
ENST00000342175.11:c.60926C>A (TTN) ENSP00000340554.6:p.Thr20309Asn
ENST00000359218.10:c.60725C>A (TTN) ENSP00000352154.5:p.Thr20242Asn
ENST00000342175.10:c.60926C>A (TTN) ENSP00000340554.6:p.Thr20309Asn
ENST00000342992.10:c.79841C>A (TTN) ENSP00000343764.6:p.Thr26614Asn
ENST00000359218.9:c.60725C>A (TTN) ENSP00000352154.5:p.Thr20242Asn
ENST00000460472.6:c.60350C>A (TTN) ENSP00000434586.1:p.Thr20117Asn
ENST00000589042.5:c.87545C>A (TTN) MANE Select ENSP00000467141.1:p.Thr29182Asn
ENST00000591111.5:c.82622C>A (TTN) ENSP00000465570.1:p.Thr27541Asn
ENST00000615779.4:c.82622C>A (TTN) ENSP00000483597.1:p.Thr27541Asn
NM_001256850.1:c.82622C>A (TTN) NP_001243779.1:p.Thr27541Asn
NM_001267550.2:c.87545C>A (TTN) MANE Select NP_001254479.2:p.Thr29182Asn
NM_003319.4:c.60350C>A (TTN) NP_003310.4:p.Thr20117Asn
NM_133378.4:c.79841C>A (TTN) NP_596869.4:p.Thr26614Asn
NM_133432.3:c.60725C>A (TTN) NP_597676.3:p.Thr20242Asn
NM_133437.4:c.60926C>A (TTN) NP_597681.4:p.Thr20309Asn
NR_038271.1:n.447-13491G>T (TTN-AS1)
NR_038272.1:n.2043+15448G>T (TTN-AS1)
XM_011511729.1:c.86642C>A (TTN) XP_011510031.1:p.Thr28881Asn
XM_011511730.1:c.60536C>A (TTN) XP_011510032.1:p.Thr20179Asn
XM_011511731.1:c.60395C>A (TTN) XP_011510033.1:p.Thr20132Asn
XM_017004819.1:c.86438C>A (TTN) XP_016860308.1:p.Thr28813Asn
XM_017004820.1:c.81836C>A (TTN) XP_016860309.1:p.Thr27279Asn
XM_017004821.1:c.81833C>A (TTN) XP_016860310.1:p.Thr27278Asn
XM_017004822.1:c.78875C>A (TTN) XP_016860311.1:p.Thr26292Asn
XM_017004823.1:c.60491C>A (TTN) XP_016860312.1:p.Thr20164Asn
XM_024453094.1:c.81986C>A (TTN) XP_024308862.1:p.Thr27329Asn
XM_024453095.1:c.81983C>A (TTN) XP_024308863.1:p.Thr27328Asn
XM_024453096.1:c.81416C>A (TTN) XP_024308864.1:p.Thr27139Asn
XM_024453097.1:c.78758C>A (TTN) XP_024308865.1:p.Thr26253Asn
XM_024453098.1:c.78677C>A (TTN) XP_024308866.1:p.Thr26226Asn
XM_024453099.1:c.60440C>A (TTN) XP_024308867.1:p.Thr20147Asn
XM_024453100.1:c.50294C>A (TTN) XP_024308868.1:p.Thr16765Asn