Canonical Allele Identifier: CA349440301
Community Standard Title: NM_001267550.2(TTN):c.64423C>T (p.Gln21475Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178585321G>A , CM000664.2:g.178585321G>A GRCh38
NC_000002.11:g.179450048G>A , CM000664.1:g.179450048G>A GRCh37
NC_000002.10:g.179158294G>A NCBI36
NG_011618.3:g.250482C>T , LRG_391:g.250482C>T
NG_051363.1:g.67495G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.64423C>T (TTN) MANE Select NP_001254479.2:p.Gln21475Ter
ENST00000589042.5:c.64423C>T (TTN) MANE Select ENSP00000467141.1:p.Gln21475Ter
NM_001256850.1:c.59500C>T (TTN) NP_001243779.1:p.Gln19834Ter
NM_003319.4:c.37228C>T (TTN) NP_003310.4:p.Gln12410Ter
NM_133378.4:c.56719C>T (TTN) NP_596869.4:p.Gln18907Ter
NM_133432.3:c.37603C>T (TTN) NP_597676.3:p.Gln12535Ter
NM_133437.4:c.37804C>T (TTN) NP_597681.4:p.Gln12602Ter
NR_038271.1:n.597-12275G>A (TTN-AS1)
NR_038272.1:n.3188+328G>A (TTN-AS1)
ENST00000342175.10:c.37804C>T (TTN) ENSP00000340554.6:p.Gln12602Ter
ENST00000342175.11:c.37804C>T (TTN) ENSP00000340554.6:p.Gln12602Ter
ENST00000342992.10:c.56719C>T (TTN) ENSP00000343764.6:p.Gln18907Ter
ENST00000342992.11:c.56719C>T (TTN) ENSP00000343764.6:p.Gln18907Ter
ENST00000359218.10:c.37603C>T (TTN) ENSP00000352154.5:p.Gln12535Ter
ENST00000359218.9:c.37603C>T (TTN) ENSP00000352154.5:p.Gln12535Ter
ENST00000460472.6:c.37228C>T (TTN) ENSP00000434586.1:p.Gln12410Ter
ENST00000591111.5:c.59500C>T (TTN) ENSP00000465570.1:p.Gln19834Ter
ENST00000615779.4:c.59500C>T (TTN) ENSP00000483597.1:p.Gln19834Ter
XM_011511729.1:c.63520C>T (TTN) XP_011510031.1:p.Gln21174Ter
XM_011511730.1:c.37414C>T (TTN) XP_011510032.1:p.Gln12472Ter
XM_011511731.1:c.37273C>T (TTN) XP_011510033.1:p.Gln12425Ter
XM_017004819.1:c.63316C>T (TTN) XP_016860308.1:p.Gln21106Ter
XM_017004820.1:c.58714C>T (TTN) XP_016860309.1:p.Gln19572Ter
XM_017004821.1:c.58711C>T (TTN) XP_016860310.1:p.Gln19571Ter
XM_017004822.1:c.55753C>T (TTN) XP_016860311.1:p.Gln18585Ter
XM_017004823.1:c.37369C>T (TTN) XP_016860312.1:p.Gln12457Ter
XM_024453094.1:c.58864C>T (TTN) XP_024308862.1:p.Gln19622Ter
XM_024453095.1:c.58861C>T (TTN) XP_024308863.1:p.Gln19621Ter
XM_024453096.1:c.58294C>T (TTN) XP_024308864.1:p.Gln19432Ter
XM_024453097.1:c.55636C>T (TTN) XP_024308865.1:p.Gln18546Ter
XM_024453098.1:c.55555C>T (TTN) XP_024308866.1:p.Gln18519Ter
XM_024453099.1:c.37318C>T (TTN) XP_024308867.1:p.Gln12440Ter
XM_024453100.1:c.27172C>T (TTN) XP_024308868.1:p.Gln9058Ter