Canonical Allele Identifier: CA273267
Community Standard Title: NM_001267550.2(TTN):c.55800G>A (p.Trp18600Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178601104C>T , CM000664.2:g.178601104C>T GRCh38
NC_000002.11:g.179465831C>T , CM000664.1:g.179465831C>T GRCh37
NC_000002.10:g.179174076C>T NCBI36
NG_011618.3:g.234699G>A , LRG_391:g.234699G>A
NG_051363.1:g.83278C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.55800G>A (TTN) MANE Select NP_001254479.2:p.Trp18600Ter
ENST00000589042.5:c.55800G>A (TTN) MANE Select ENSP00000467141.1:p.Trp18600Ter
NM_001256850.1:c.50877G>A (TTN) NP_001243779.1:p.Trp16959Ter
NM_003319.4:c.28605G>A (TTN) NP_003310.4:p.Trp9535Ter
NM_133378.4:c.48096G>A (TTN) NP_596869.4:p.Trp16032Ter
NM_133432.3:c.28980G>A (TTN) NP_597676.3:p.Trp9660Ter
NM_133437.4:c.29181G>A (TTN) NP_597681.4:p.Trp9727Ter
NR_038271.1:n.682+3423C>T (TTN-AS1)
NR_038272.1:n.3917+437C>T (TTN-AS1)
ENST00000342175.10:c.29181G>A (TTN) ENSP00000340554.6:p.Trp9727Ter
ENST00000342175.11:c.29181G>A (TTN) ENSP00000340554.6:p.Trp9727Ter
ENST00000342992.10:c.48096G>A (TTN) ENSP00000343764.6:p.Trp16032Ter
ENST00000342992.11:c.48096G>A (TTN) ENSP00000343764.6:p.Trp16032Ter
ENST00000359218.10:c.28980G>A (TTN) ENSP00000352154.5:p.Trp9660Ter
ENST00000359218.9:c.28980G>A (TTN) ENSP00000352154.5:p.Trp9660Ter
ENST00000460472.6:c.28605G>A (TTN) ENSP00000434586.1:p.Trp9535Ter
ENST00000591111.5:c.50877G>A (TTN) ENSP00000465570.1:p.Trp16959Ter
ENST00000615779.4:c.50877G>A (TTN) ENSP00000483597.1:p.Trp16959Ter
XM_011511729.1:c.54897G>A (TTN) XP_011510031.1:p.Trp18299Ter
XM_011511730.1:c.28791G>A (TTN) XP_011510032.1:p.Trp9597Ter
XM_011511731.1:c.28650G>A (TTN) XP_011510033.1:p.Trp9550Ter
XM_017004819.1:c.54693G>A (TTN) XP_016860308.1:p.Trp18231Ter
XM_017004820.1:c.50091G>A (TTN) XP_016860309.1:p.Trp16697Ter
XM_017004821.1:c.50088G>A (TTN) XP_016860310.1:p.Trp16696Ter
XM_017004822.1:c.47130G>A (TTN) XP_016860311.1:p.Trp15710Ter
XM_017004823.1:c.28746G>A (TTN) XP_016860312.1:p.Trp9582Ter
XM_024453094.1:c.50241G>A (TTN) XP_024308862.1:p.Trp16747Ter
XM_024453095.1:c.50238G>A (TTN) XP_024308863.1:p.Trp16746Ter
XM_024453096.1:c.49671G>A (TTN) XP_024308864.1:p.Trp16557Ter
XM_024453097.1:c.47013G>A (TTN) XP_024308865.1:p.Trp15671Ter
XM_024453098.1:c.46932G>A (TTN) XP_024308866.1:p.Trp15644Ter
XM_024453099.1:c.28695G>A (TTN) XP_024308867.1:p.Trp9565Ter
XM_024453100.1:c.18549G>A (TTN) XP_024308868.1:p.Trp6183Ter