Canonical Allele Identifier: CA349510962
Community Standard Title: NM_001267550.2(TTN):c.90418C>T (p.Gln30140Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178552482G>A , CM000664.2:g.178552482G>A GRCh38
NC_000002.11:g.179417209G>A , CM000664.1:g.179417209G>A GRCh37
NC_000002.10:g.179125455G>A NCBI36
NG_011618.3:g.283321C>T , LRG_391:g.283321C>T
NG_051363.1:g.34656G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.90418C>T (TTN) MANE Select NP_001254479.2:p.Gln30140Ter
ENST00000589042.5:c.90418C>T (TTN) MANE Select ENSP00000467141.1:p.Gln30140Ter
NM_001256850.1:c.85495C>T (TTN) NP_001243779.1:p.Gln28499Ter
NM_003319.4:c.63223C>T (TTN) NP_003310.4:p.Gln21075Ter
NM_133378.4:c.82714C>T (TTN) NP_596869.4:p.Gln27572Ter
NM_133432.3:c.63598C>T (TTN) NP_597676.3:p.Gln21200Ter
NM_133437.4:c.63799C>T (TTN) NP_597681.4:p.Gln21267Ter
NR_038271.1:n.447-18818G>A (TTN-AS1)
NR_038272.1:n.2043+10121G>A (TTN-AS1)
ENST00000342175.10:c.63799C>T (TTN) ENSP00000340554.6:p.Gln21267Ter
ENST00000342175.11:c.63799C>T (TTN) ENSP00000340554.6:p.Gln21267Ter
ENST00000342992.10:c.82714C>T (TTN) ENSP00000343764.6:p.Gln27572Ter
ENST00000342992.11:c.82714C>T (TTN) ENSP00000343764.6:p.Gln27572Ter
ENST00000359218.10:c.63598C>T (TTN) ENSP00000352154.5:p.Gln21200Ter
ENST00000359218.9:c.63598C>T (TTN) ENSP00000352154.5:p.Gln21200Ter
ENST00000460472.6:c.63223C>T (TTN) ENSP00000434586.1:p.Gln21075Ter
ENST00000591111.5:c.85495C>T (TTN) ENSP00000465570.1:p.Gln28499Ter
ENST00000615779.4:c.85495C>T (TTN) ENSP00000483597.1:p.Gln28499Ter
XM_011511729.1:c.89515C>T (TTN) XP_011510031.1:p.Gln29839Ter
XM_011511730.1:c.63409C>T (TTN) XP_011510032.1:p.Gln21137Ter
XM_011511731.1:c.63268C>T (TTN) XP_011510033.1:p.Gln21090Ter
XM_017004819.1:c.89311C>T (TTN) XP_016860308.1:p.Gln29771Ter
XM_017004820.1:c.84709C>T (TTN) XP_016860309.1:p.Gln28237Ter
XM_017004821.1:c.84706C>T (TTN) XP_016860310.1:p.Gln28236Ter
XM_017004822.1:c.81748C>T (TTN) XP_016860311.1:p.Gln27250Ter
XM_017004823.1:c.63364C>T (TTN) XP_016860312.1:p.Gln21122Ter
XM_024453094.1:c.84859C>T (TTN) XP_024308862.1:p.Gln28287Ter
XM_024453095.1:c.84856C>T (TTN) XP_024308863.1:p.Gln28286Ter
XM_024453096.1:c.84289C>T (TTN) XP_024308864.1:p.Gln28097Ter
XM_024453097.1:c.81631C>T (TTN) XP_024308865.1:p.Gln27211Ter
XM_024453098.1:c.81550C>T (TTN) XP_024308866.1:p.Gln27184Ter
XM_024453099.1:c.63313C>T (TTN) XP_024308867.1:p.Gln21105Ter
XM_024453100.1:c.53167C>T (TTN) XP_024308868.1:p.Gln17723Ter