Canonical Allele Identifier: CA349553522
Community Standard Title: NM_001267550.2(TTN):c.54378T>A (p.Tyr18126Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178604711A>T , CM000664.2:g.178604711A>T GRCh38
NC_000002.11:g.179469438A>T , CM000664.1:g.179469438A>T GRCh37
NC_000002.10:g.179177683A>T NCBI36
NG_011618.3:g.231092T>A , LRG_391:g.231092T>A
NG_051363.1:g.86885A>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.54378T>A (TTN) MANE Select NP_001254479.2:p.Tyr18126Ter
ENST00000589042.5:c.54378T>A (TTN) MANE Select ENSP00000467141.1:p.Tyr18126Ter
NM_001256850.1:c.49455T>A (TTN) NP_001243779.1:p.Tyr16485Ter
NM_003319.4:c.27183T>A (TTN) NP_003310.4:p.Tyr9061Ter
NM_133378.4:c.46674T>A (TTN) NP_596869.4:p.Tyr15558Ter
NM_133432.3:c.27558T>A (TTN) NP_597676.3:p.Tyr9186Ter
NM_133437.4:c.27759T>A (TTN) NP_597681.4:p.Tyr9253Ter
NR_038271.1:n.683-3456A>T (TTN-AS1)
NR_038272.1:n.3918-20A>T (TTN-AS1)
ENST00000342175.10:c.27759T>A (TTN) ENSP00000340554.6:p.Tyr9253Ter
ENST00000342175.11:c.27759T>A (TTN) ENSP00000340554.6:p.Tyr9253Ter
ENST00000342992.10:c.46674T>A (TTN) ENSP00000343764.6:p.Tyr15558Ter
ENST00000342992.11:c.46674T>A (TTN) ENSP00000343764.6:p.Tyr15558Ter
ENST00000359218.10:c.27558T>A (TTN) ENSP00000352154.5:p.Tyr9186Ter
ENST00000359218.9:c.27558T>A (TTN) ENSP00000352154.5:p.Tyr9186Ter
ENST00000460472.6:c.27183T>A (TTN) ENSP00000434586.1:p.Tyr9061Ter
ENST00000591111.5:c.49455T>A (TTN) ENSP00000465570.1:p.Tyr16485Ter
ENST00000615779.4:c.49455T>A (TTN) ENSP00000483597.1:p.Tyr16485Ter
XM_011511729.1:c.53475T>A (TTN) XP_011510031.1:p.Tyr17825Ter
XM_011511730.1:c.27369T>A (TTN) XP_011510032.1:p.Tyr9123Ter
XM_011511731.1:c.27228T>A (TTN) XP_011510033.1:p.Tyr9076Ter
XM_017004819.1:c.53271T>A (TTN) XP_016860308.1:p.Tyr17757Ter
XM_017004820.1:c.48669T>A (TTN) XP_016860309.1:p.Tyr16223Ter
XM_017004821.1:c.48666T>A (TTN) XP_016860310.1:p.Tyr16222Ter
XM_017004822.1:c.45708T>A (TTN) XP_016860311.1:p.Tyr15236Ter
XM_017004823.1:c.27324T>A (TTN) XP_016860312.1:p.Tyr9108Ter
XM_024453094.1:c.48819T>A (TTN) XP_024308862.1:p.Tyr16273Ter
XM_024453095.1:c.48816T>A (TTN) XP_024308863.1:p.Tyr16272Ter
XM_024453096.1:c.48249T>A (TTN) XP_024308864.1:p.Tyr16083Ter
XM_024453097.1:c.45591T>A (TTN) XP_024308865.1:p.Tyr15197Ter
XM_024453098.1:c.45510T>A (TTN) XP_024308866.1:p.Tyr15170Ter
XM_024453099.1:c.27273T>A (TTN) XP_024308867.1:p.Tyr9091Ter
XM_024453100.1:c.17127T>A (TTN) XP_024308868.1:p.Tyr5709Ter