Canonical Allele Identifier: CA349398643

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178527128T>C , CM000664.2:g.178527128T>C GRCh38
NC_000002.11:g.179391855T>C , CM000664.1:g.179391855T>C GRCh37
NC_000002.10:g.179100101T>C NCBI36
NG_011618.3:g.308675A>G , LRG_391:g.308675A>G
NG_051363.1:g.9302T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.100156A>G (TTN) ENSP00000343764.6:p.Thr33386Ala
ENST00000342175.11:c.81241A>G (TTN) ENSP00000340554.6:p.Thr27081Ala
ENST00000359218.10:c.81040A>G (TTN) ENSP00000352154.5:p.Thr27014Ala
ENST00000342175.10:c.81241A>G (TTN) ENSP00000340554.6:p.Thr27081Ala
ENST00000342992.10:c.100156A>G (TTN) ENSP00000343764.6:p.Thr33386Ala
ENST00000359218.9:c.81040A>G (TTN) ENSP00000352154.5:p.Thr27014Ala
ENST00000460472.6:c.80665A>G (TTN) ENSP00000434586.1:p.Thr26889Ala
ENST00000589042.5:c.107860A>G (TTN) MANE Select ENSP00000467141.1:p.Thr35954Ala
ENST00000591111.5:c.102937A>G (TTN) ENSP00000465570.1:p.Thr34313Ala
ENST00000615779.4:c.102937A>G (TTN) ENSP00000483597.1:p.Thr34313Ala
NM_001256850.1:c.102937A>G (TTN) NP_001243779.1:p.Thr34313Ala
NM_001267550.2:c.107860A>G (TTN) MANE Select NP_001254479.2:p.Thr35954Ala
NM_003319.4:c.80665A>G (TTN) NP_003310.4:p.Thr26889Ala
NM_133378.4:c.100156A>G (TTN) NP_596869.4:p.Thr33386Ala
NM_133432.3:c.81040A>G (TTN) NP_597676.3:p.Thr27014Ala
NM_133437.4:c.81241A>G (TTN) NP_597681.4:p.Thr27081Ala
NR_038271.1:n.446+3492T>C (TTN-AS1)
NR_038272.1:n.219+3492T>C (TTN-AS1)
XM_011511729.1:c.106957A>G (TTN) XP_011510031.1:p.Thr35653Ala
XM_011511730.1:c.80851A>G (TTN) XP_011510032.1:p.Thr26951Ala
XM_011511731.1:c.80710A>G (TTN) XP_011510033.1:p.Thr26904Ala
XM_017004819.1:c.106753A>G (TTN) XP_016860308.1:p.Thr35585Ala
XM_017004820.1:c.102151A>G (TTN) XP_016860309.1:p.Thr34051Ala
XM_017004821.1:c.102148A>G (TTN) XP_016860310.1:p.Thr34050Ala
XM_017004822.1:c.99190A>G (TTN) XP_016860311.1:p.Thr33064Ala
XM_017004823.1:c.80806A>G (TTN) XP_016860312.1:p.Thr26936Ala
XM_024453094.1:c.102301A>G (TTN) XP_024308862.1:p.Thr34101Ala
XM_024453095.1:c.102298A>G (TTN) XP_024308863.1:p.Thr34100Ala
XM_024453096.1:c.101731A>G (TTN) XP_024308864.1:p.Thr33911Ala
XM_024453097.1:c.99073A>G (TTN) XP_024308865.1:p.Thr33025Ala
XM_024453098.1:c.98992A>G (TTN) XP_024308866.1:p.Thr32998Ala
XM_024453099.1:c.80755A>G (TTN) XP_024308867.1:p.Thr26919Ala
XM_024453100.1:c.70609A>G (TTN) XP_024308868.1:p.Thr23537Ala