Canonical Allele Identifier: CA349618035
Community Standard Title: NM_001267550.2(TTN):c.47314C>T (p.Arg15772Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178618037G>A , CM000664.2:g.178618037G>A GRCh38
NC_000002.11:g.179482764G>A , CM000664.1:g.179482764G>A GRCh37
NC_000002.10:g.179191009G>A NCBI36
NG_011618.3:g.217766C>T , LRG_391:g.217766C>T
NG_051363.1:g.100211G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.47314C>T (TTN) MANE Select NP_001254479.2:p.Arg15772Ter
ENST00000589042.5:c.47314C>T (TTN) MANE Select ENSP00000467141.1:p.Arg15772Ter
NM_001256850.1:c.42391C>T (TTN) NP_001243779.1:p.Arg14131Ter
NM_003319.4:c.20119C>T (TTN) NP_003310.4:p.Arg6707Ter
NM_133378.4:c.39610C>T (TTN) NP_596869.4:p.Arg13204Ter
NM_133432.3:c.20494C>T (TTN) NP_597676.3:p.Arg6832Ter
NM_133437.4:c.20695C>T (TTN) NP_597681.4:p.Arg6899Ter
NR_038271.1:n.1605-1716G>A (TTN-AS1)
ENST00000342175.10:c.20695C>T (TTN) ENSP00000340554.6:p.Arg6899Ter
ENST00000342175.11:c.20695C>T (TTN) ENSP00000340554.6:p.Arg6899Ter
ENST00000342992.10:c.39610C>T (TTN) ENSP00000343764.6:p.Arg13204Ter
ENST00000342992.11:c.39610C>T (TTN) ENSP00000343764.6:p.Arg13204Ter
ENST00000359218.10:c.20494C>T (TTN) ENSP00000352154.5:p.Arg6832Ter
ENST00000359218.9:c.20494C>T (TTN) ENSP00000352154.5:p.Arg6832Ter
ENST00000460472.6:c.20119C>T (TTN) ENSP00000434586.1:p.Arg6707Ter
ENST00000591111.5:c.42391C>T (TTN) ENSP00000465570.1:p.Arg14131Ter
ENST00000615779.4:c.42391C>T (TTN) ENSP00000483597.1:p.Arg14131Ter
XM_011511729.1:c.46411C>T (TTN) XP_011510031.1:p.Arg15471Ter
XM_011511730.1:c.20305C>T (TTN) XP_011510032.1:p.Arg6769Ter
XM_011511731.1:c.20164C>T (TTN) XP_011510033.1:p.Arg6722Ter
XM_017004819.1:c.46207C>T (TTN) XP_016860308.1:p.Arg15403Ter
XM_017004820.1:c.41605C>T (TTN) XP_016860309.1:p.Arg13869Ter
XM_017004821.1:c.41602C>T (TTN) XP_016860310.1:p.Arg13868Ter
XM_017004822.1:c.38644C>T (TTN) XP_016860311.1:p.Arg12882Ter
XM_017004823.1:c.20260C>T (TTN) XP_016860312.1:p.Arg6754Ter
XM_024453094.1:c.41755C>T (TTN) XP_024308862.1:p.Arg13919Ter
XM_024453095.1:c.41752C>T (TTN) XP_024308863.1:p.Arg13918Ter
XM_024453096.1:c.41185C>T (TTN) XP_024308864.1:p.Arg13729Ter
XM_024453097.1:c.38527C>T (TTN) XP_024308865.1:p.Arg12843Ter
XM_024453098.1:c.38446C>T (TTN) XP_024308866.1:p.Arg12816Ter
XM_024453099.1:c.20209C>T (TTN) XP_024308867.1:p.Arg6737Ter
XM_024453100.1:c.10063C>T (TTN) XP_024308868.1:p.Arg3355Ter