Canonical Allele Identifier: CA349612483
Community Standard Title: NM_001267550.2(TTN):c.47988G>A (p.Trp15996Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178616901C>T , CM000664.2:g.178616901C>T GRCh38
NC_000002.11:g.179481628C>T , CM000664.1:g.179481628C>T GRCh37
NC_000002.10:g.179189873C>T NCBI36
NG_011618.3:g.218902G>A , LRG_391:g.218902G>A
NG_051363.1:g.99075C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.47988G>A (TTN) MANE Select NP_001254479.2:p.Trp15996Ter
ENST00000589042.5:c.47988G>A (TTN) MANE Select ENSP00000467141.1:p.Trp15996Ter
NM_001256850.1:c.43065G>A (TTN) NP_001243779.1:p.Trp14355Ter
NM_003319.4:c.20793G>A (TTN) NP_003310.4:p.Trp6931Ter
NM_133378.4:c.40284G>A (TTN) NP_596869.4:p.Trp13428Ter
NM_133432.3:c.21168G>A (TTN) NP_597676.3:p.Trp7056Ter
NM_133437.4:c.21369G>A (TTN) NP_597681.4:p.Trp7123Ter
NR_038271.1:n.1604+1527C>T (TTN-AS1)
ENST00000342175.10:c.21369G>A (TTN) ENSP00000340554.6:p.Trp7123Ter
ENST00000342175.11:c.21369G>A (TTN) ENSP00000340554.6:p.Trp7123Ter
ENST00000342992.10:c.40284G>A (TTN) ENSP00000343764.6:p.Trp13428Ter
ENST00000342992.11:c.40284G>A (TTN) ENSP00000343764.6:p.Trp13428Ter
ENST00000359218.10:c.21168G>A (TTN) ENSP00000352154.5:p.Trp7056Ter
ENST00000359218.9:c.21168G>A (TTN) ENSP00000352154.5:p.Trp7056Ter
ENST00000460472.6:c.20793G>A (TTN) ENSP00000434586.1:p.Trp6931Ter
ENST00000591111.5:c.43065G>A (TTN) ENSP00000465570.1:p.Trp14355Ter
ENST00000615779.4:c.43065G>A (TTN) ENSP00000483597.1:p.Trp14355Ter
XM_011511729.1:c.47085G>A (TTN) XP_011510031.1:p.Trp15695Ter
XM_011511730.1:c.20979G>A (TTN) XP_011510032.1:p.Trp6993Ter
XM_011511731.1:c.20838G>A (TTN) XP_011510033.1:p.Trp6946Ter
XM_017004819.1:c.46881G>A (TTN) XP_016860308.1:p.Trp15627Ter
XM_017004820.1:c.42279G>A (TTN) XP_016860309.1:p.Trp14093Ter
XM_017004821.1:c.42276G>A (TTN) XP_016860310.1:p.Trp14092Ter
XM_017004822.1:c.39318G>A (TTN) XP_016860311.1:p.Trp13106Ter
XM_017004823.1:c.20934G>A (TTN) XP_016860312.1:p.Trp6978Ter
XM_024453094.1:c.42429G>A (TTN) XP_024308862.1:p.Trp14143Ter
XM_024453095.1:c.42426G>A (TTN) XP_024308863.1:p.Trp14142Ter
XM_024453096.1:c.41859G>A (TTN) XP_024308864.1:p.Trp13953Ter
XM_024453097.1:c.39201G>A (TTN) XP_024308865.1:p.Trp13067Ter
XM_024453098.1:c.39120G>A (TTN) XP_024308866.1:p.Trp13040Ter
XM_024453099.1:c.20883G>A (TTN) XP_024308867.1:p.Trp6961Ter
XM_024453100.1:c.10737G>A (TTN) XP_024308868.1:p.Trp3579Ter