Canonical Allele Identifier: CA349398376

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178527080T>A , CM000664.2:g.178527080T>A GRCh38
NC_000002.11:g.179391807T>A , CM000664.1:g.179391807T>A GRCh37
NC_000002.10:g.179100053T>A NCBI36
NG_011618.3:g.308723A>T , LRG_391:g.308723A>T
NG_051363.1:g.9254T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.100204A>T (TTN) ENSP00000343764.6:p.Thr33402Ser
ENST00000342175.11:c.81289A>T (TTN) ENSP00000340554.6:p.Thr27097Ser
ENST00000359218.10:c.81088A>T (TTN) ENSP00000352154.5:p.Thr27030Ser
ENST00000342175.10:c.81289A>T (TTN) ENSP00000340554.6:p.Thr27097Ser
ENST00000342992.10:c.100204A>T (TTN) ENSP00000343764.6:p.Thr33402Ser
ENST00000359218.9:c.81088A>T (TTN) ENSP00000352154.5:p.Thr27030Ser
ENST00000460472.6:c.80713A>T (TTN) ENSP00000434586.1:p.Thr26905Ser
ENST00000589042.5:c.107908A>T (TTN) MANE Select ENSP00000467141.1:p.Thr35970Ser
ENST00000591111.5:c.102985A>T (TTN) ENSP00000465570.1:p.Thr34329Ser
ENST00000615779.4:c.102985A>T (TTN) ENSP00000483597.1:p.Thr34329Ser
NM_001256850.1:c.102985A>T (TTN) NP_001243779.1:p.Thr34329Ser
NM_001267550.2:c.107908A>T (TTN) MANE Select NP_001254479.2:p.Thr35970Ser
NM_003319.4:c.80713A>T (TTN) NP_003310.4:p.Thr26905Ser
NM_133378.4:c.100204A>T (TTN) NP_596869.4:p.Thr33402Ser
NM_133432.3:c.81088A>T (TTN) NP_597676.3:p.Thr27030Ser
NM_133437.4:c.81289A>T (TTN) NP_597681.4:p.Thr27097Ser
NR_038271.1:n.446+3444T>A (TTN-AS1)
NR_038272.1:n.219+3444T>A (TTN-AS1)
XM_011511729.1:c.107005A>T (TTN) XP_011510031.1:p.Thr35669Ser
XM_011511730.1:c.80899A>T (TTN) XP_011510032.1:p.Thr26967Ser
XM_011511731.1:c.80758A>T (TTN) XP_011510033.1:p.Thr26920Ser
XM_017004819.1:c.106801A>T (TTN) XP_016860308.1:p.Thr35601Ser
XM_017004820.1:c.102199A>T (TTN) XP_016860309.1:p.Thr34067Ser
XM_017004821.1:c.102196A>T (TTN) XP_016860310.1:p.Thr34066Ser
XM_017004822.1:c.99238A>T (TTN) XP_016860311.1:p.Thr33080Ser
XM_017004823.1:c.80854A>T (TTN) XP_016860312.1:p.Thr26952Ser
XM_024453094.1:c.102349A>T (TTN) XP_024308862.1:p.Thr34117Ser
XM_024453095.1:c.102346A>T (TTN) XP_024308863.1:p.Thr34116Ser
XM_024453096.1:c.101779A>T (TTN) XP_024308864.1:p.Thr33927Ser
XM_024453097.1:c.99121A>T (TTN) XP_024308865.1:p.Thr33041Ser
XM_024453098.1:c.99040A>T (TTN) XP_024308866.1:p.Thr33014Ser
XM_024453099.1:c.80803A>T (TTN) XP_024308867.1:p.Thr26935Ser
XM_024453100.1:c.70657A>T (TTN) XP_024308868.1:p.Thr23553Ser