Canonical Allele Identifier: CA60965068
Community Standard Title: NM_001267550.2(TTN):c.63945C>T (p.Thr21315=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178587266G>A , CM000664.2:g.178587266G>A GRCh38
NC_000002.11:g.179451993G>A , CM000664.1:g.179451993G>A GRCh37
NC_000002.10:g.179160239G>A NCBI36
NG_011618.3:g.248537C>T , LRG_391:g.248537C>T
NG_051363.1:g.69440G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.63945C>T (TTN) MANE Select NP_001254479.2:p.Thr21315=
ENST00000589042.5:c.63945C>T (TTN) MANE Select ENSP00000467141.1:p.Thr21315=
NM_001256850.1:c.59022C>T (TTN) NP_001243779.1:p.Thr19674=
NM_003319.4:c.36750C>T (TTN) NP_003310.4:p.Thr12250=
NM_133378.4:c.56241C>T (TTN) NP_596869.4:p.Thr18747=
NM_133432.3:c.37125C>T (TTN) NP_597676.3:p.Thr12375=
NM_133437.4:c.37326C>T (TTN) NP_597681.4:p.Thr12442=
NR_038271.1:n.597-10330G>A (TTN-AS1)
NR_038272.1:n.3188+2273G>A (TTN-AS1)
ENST00000342175.10:c.37326C>T (TTN) ENSP00000340554.6:p.Thr12442=
ENST00000342175.11:c.37326C>T (TTN) ENSP00000340554.6:p.Thr12442=
ENST00000342992.10:c.56241C>T (TTN) ENSP00000343764.6:p.Thr18747=
ENST00000342992.11:c.56241C>T (TTN) ENSP00000343764.6:p.Thr18747=
ENST00000359218.10:c.37125C>T (TTN) ENSP00000352154.5:p.Thr12375=
ENST00000359218.9:c.37125C>T (TTN) ENSP00000352154.5:p.Thr12375=
ENST00000460472.6:c.36750C>T (TTN) ENSP00000434586.1:p.Thr12250=
ENST00000591111.5:c.59022C>T (TTN) ENSP00000465570.1:p.Thr19674=
ENST00000615779.4:c.59022C>T (TTN) ENSP00000483597.1:p.Thr19674=
XM_011511729.1:c.63042C>T (TTN) XP_011510031.1:p.Thr21014=
XM_011511730.1:c.36936C>T (TTN) XP_011510032.1:p.Thr12312=
XM_011511731.1:c.36795C>T (TTN) XP_011510033.1:p.Thr12265=
XM_017004819.1:c.62838C>T (TTN) XP_016860308.1:p.Thr20946=
XM_017004820.1:c.58236C>T (TTN) XP_016860309.1:p.Thr19412=
XM_017004821.1:c.58233C>T (TTN) XP_016860310.1:p.Thr19411=
XM_017004822.1:c.55275C>T (TTN) XP_016860311.1:p.Thr18425=
XM_017004823.1:c.36891C>T (TTN) XP_016860312.1:p.Thr12297=
XM_024453094.1:c.58386C>T (TTN) XP_024308862.1:p.Thr19462=
XM_024453095.1:c.58383C>T (TTN) XP_024308863.1:p.Thr19461=
XM_024453096.1:c.57816C>T (TTN) XP_024308864.1:p.Thr19272=
XM_024453097.1:c.55158C>T (TTN) XP_024308865.1:p.Thr18386=
XM_024453098.1:c.55077C>T (TTN) XP_024308866.1:p.Thr18359=
XM_024453099.1:c.36840C>T (TTN) XP_024308867.1:p.Thr12280=
XM_024453100.1:c.26694C>T (TTN) XP_024308868.1:p.Thr8898=