Canonical Allele Identifier: CA349619791
Community Standard Title: NM_001267550.2(TTN):c.47112G>A (p.Trp15704Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178618346C>T , CM000664.2:g.178618346C>T GRCh38
NC_000002.11:g.179483073C>T , CM000664.1:g.179483073C>T GRCh37
NC_000002.10:g.179191318C>T NCBI36
NG_011618.3:g.217457G>A , LRG_391:g.217457G>A
NG_051363.1:g.100520C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.47112G>A (TTN) MANE Select NP_001254479.2:p.Trp15704Ter
ENST00000589042.5:c.47112G>A (TTN) MANE Select ENSP00000467141.1:p.Trp15704Ter
NM_001256850.1:c.42189G>A (TTN) NP_001243779.1:p.Trp14063Ter
NM_003319.4:c.19917G>A (TTN) NP_003310.4:p.Trp6639Ter
NM_133378.4:c.39408G>A (TTN) NP_596869.4:p.Trp13136Ter
NM_133432.3:c.20292G>A (TTN) NP_597676.3:p.Trp6764Ter
NM_133437.4:c.20493G>A (TTN) NP_597681.4:p.Trp6831Ter
NR_038271.1:n.1605-1407C>T (TTN-AS1)
ENST00000342175.10:c.20493G>A (TTN) ENSP00000340554.6:p.Trp6831Ter
ENST00000342175.11:c.20493G>A (TTN) ENSP00000340554.6:p.Trp6831Ter
ENST00000342992.10:c.39408G>A (TTN) ENSP00000343764.6:p.Trp13136Ter
ENST00000342992.11:c.39408G>A (TTN) ENSP00000343764.6:p.Trp13136Ter
ENST00000359218.10:c.20292G>A (TTN) ENSP00000352154.5:p.Trp6764Ter
ENST00000359218.9:c.20292G>A (TTN) ENSP00000352154.5:p.Trp6764Ter
ENST00000460472.6:c.19917G>A (TTN) ENSP00000434586.1:p.Trp6639Ter
ENST00000591111.5:c.42189G>A (TTN) ENSP00000465570.1:p.Trp14063Ter
ENST00000615779.4:c.42189G>A (TTN) ENSP00000483597.1:p.Trp14063Ter
XM_011511729.1:c.46209G>A (TTN) XP_011510031.1:p.Trp15403Ter
XM_011511730.1:c.20103G>A (TTN) XP_011510032.1:p.Trp6701Ter
XM_011511731.1:c.19962G>A (TTN) XP_011510033.1:p.Trp6654Ter
XM_017004819.1:c.46005G>A (TTN) XP_016860308.1:p.Trp15335Ter
XM_017004820.1:c.41403G>A (TTN) XP_016860309.1:p.Trp13801Ter
XM_017004821.1:c.41400G>A (TTN) XP_016860310.1:p.Trp13800Ter
XM_017004822.1:c.38442G>A (TTN) XP_016860311.1:p.Trp12814Ter
XM_017004823.1:c.20058G>A (TTN) XP_016860312.1:p.Trp6686Ter
XM_024453094.1:c.41553G>A (TTN) XP_024308862.1:p.Trp13851Ter
XM_024453095.1:c.41550G>A (TTN) XP_024308863.1:p.Trp13850Ter
XM_024453096.1:c.40983G>A (TTN) XP_024308864.1:p.Trp13661Ter
XM_024453097.1:c.38325G>A (TTN) XP_024308865.1:p.Trp12775Ter
XM_024453098.1:c.38244G>A (TTN) XP_024308866.1:p.Trp12748Ter
XM_024453099.1:c.20007G>A (TTN) XP_024308867.1:p.Trp6669Ter
XM_024453100.1:c.9861G>A (TTN) XP_024308868.1:p.Trp3287Ter