Canonical Allele Identifier: CA60965970
Community Standard Title: NM_001267550.2(TTN):c.97972C>T (p.Arg32658Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178540194G>A , CM000664.2:g.178540194G>A GRCh38
NC_000002.11:g.179404921G>A , CM000664.1:g.179404921G>A GRCh37
NC_000002.10:g.179113167G>A NCBI36
NG_011618.3:g.295609C>T , LRG_391:g.295609C>T
NG_051363.1:g.22368G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.97972C>T (TTN) MANE Select NP_001254479.2:p.Arg32658Ter
ENST00000589042.5:c.97972C>T (TTN) MANE Select ENSP00000467141.1:p.Arg32658Ter
NM_001256850.1:c.93049C>T (TTN) NP_001243779.1:p.Arg31017Ter
NM_003319.4:c.70777C>T (TTN) NP_003310.4:p.Arg23593Ter
NM_133378.4:c.90268C>T (TTN) NP_596869.4:p.Arg30090Ter
NM_133432.3:c.71152C>T (TTN) NP_597676.3:p.Arg23718Ter
NM_133437.4:c.71353C>T (TTN) NP_597681.4:p.Arg23785Ter
NR_038271.1:n.446+16558G>A (TTN-AS1)
NR_038272.1:n.1903+25G>A (TTN-AS1)
ENST00000342175.10:c.71353C>T (TTN) ENSP00000340554.6:p.Arg23785Ter
ENST00000342175.11:c.71353C>T (TTN) ENSP00000340554.6:p.Arg23785Ter
ENST00000342992.10:c.90268C>T (TTN) ENSP00000343764.6:p.Arg30090Ter
ENST00000342992.11:c.90268C>T (TTN) ENSP00000343764.6:p.Arg30090Ter
ENST00000359218.10:c.71152C>T (TTN) ENSP00000352154.5:p.Arg23718Ter
ENST00000359218.9:c.71152C>T (TTN) ENSP00000352154.5:p.Arg23718Ter
ENST00000460472.6:c.70777C>T (TTN) ENSP00000434586.1:p.Arg23593Ter
ENST00000591111.5:c.93049C>T (TTN) ENSP00000465570.1:p.Arg31017Ter
ENST00000615779.4:c.93049C>T (TTN) ENSP00000483597.1:p.Arg31017Ter
XM_011511729.1:c.97069C>T (TTN) XP_011510031.1:p.Arg32357Ter
XM_011511730.1:c.70963C>T (TTN) XP_011510032.1:p.Arg23655Ter
XM_011511731.1:c.70822C>T (TTN) XP_011510033.1:p.Arg23608Ter
XM_017004819.1:c.96865C>T (TTN) XP_016860308.1:p.Arg32289Ter
XM_017004820.1:c.92263C>T (TTN) XP_016860309.1:p.Arg30755Ter
XM_017004821.1:c.92260C>T (TTN) XP_016860310.1:p.Arg30754Ter
XM_017004822.1:c.89302C>T (TTN) XP_016860311.1:p.Arg29768Ter
XM_017004823.1:c.70918C>T (TTN) XP_016860312.1:p.Arg23640Ter
XM_024453094.1:c.92413C>T (TTN) XP_024308862.1:p.Arg30805Ter
XM_024453095.1:c.92410C>T (TTN) XP_024308863.1:p.Arg30804Ter
XM_024453096.1:c.91843C>T (TTN) XP_024308864.1:p.Arg30615Ter
XM_024453097.1:c.89185C>T (TTN) XP_024308865.1:p.Arg29729Ter
XM_024453098.1:c.89104C>T (TTN) XP_024308866.1:p.Arg29702Ter
XM_024453099.1:c.70867C>T (TTN) XP_024308867.1:p.Arg23623Ter
XM_024453100.1:c.60721C>T (TTN) XP_024308868.1:p.Arg20241Ter