Canonical Allele Identifier: CA349415781
Community Standard Title: NM_001267550.2(TTN):c.102916A>T (p.Lys34306Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178533699T>A , CM000664.2:g.178533699T>A GRCh38
NC_000002.11:g.179398426T>A , CM000664.1:g.179398426T>A GRCh37
NC_000002.10:g.179106672T>A NCBI36
NG_011618.3:g.302104A>T , LRG_391:g.302104A>T
NG_051363.1:g.15873T>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.102916A>T (TTN) MANE Select NP_001254479.2:p.Lys34306Ter
ENST00000589042.5:c.102916A>T (TTN) MANE Select ENSP00000467141.1:p.Lys34306Ter
NM_001256850.1:c.97993A>T (TTN) NP_001243779.1:p.Lys32665Ter
NM_003319.4:c.75721A>T (TTN) NP_003310.4:p.Lys25241Ter
NM_133378.4:c.95212A>T (TTN) NP_596869.4:p.Lys31738Ter
NM_133432.3:c.76096A>T (TTN) NP_597676.3:p.Lys25366Ter
NM_133437.4:c.76297A>T (TTN) NP_597681.4:p.Lys25433Ter
NR_038271.1:n.446+10063T>A (TTN-AS1)
NR_038272.1:n.220-2033T>A (TTN-AS1)
ENST00000342175.10:c.76297A>T (TTN) ENSP00000340554.6:p.Lys25433Ter
ENST00000342175.11:c.76297A>T (TTN) ENSP00000340554.6:p.Lys25433Ter
ENST00000342992.10:c.95212A>T (TTN) ENSP00000343764.6:p.Lys31738Ter
ENST00000342992.11:c.95212A>T (TTN) ENSP00000343764.6:p.Lys31738Ter
ENST00000359218.10:c.76096A>T (TTN) ENSP00000352154.5:p.Lys25366Ter
ENST00000359218.9:c.76096A>T (TTN) ENSP00000352154.5:p.Lys25366Ter
ENST00000460472.6:c.75721A>T (TTN) ENSP00000434586.1:p.Lys25241Ter
ENST00000591111.5:c.97993A>T (TTN) ENSP00000465570.1:p.Lys32665Ter
ENST00000615779.4:c.97993A>T (TTN) ENSP00000483597.1:p.Lys32665Ter
XM_011511729.1:c.102013A>T (TTN) XP_011510031.1:p.Lys34005Ter
XM_011511730.1:c.75907A>T (TTN) XP_011510032.1:p.Lys25303Ter
XM_011511731.1:c.75766A>T (TTN) XP_011510033.1:p.Lys25256Ter
XM_017004819.1:c.101809A>T (TTN) XP_016860308.1:p.Lys33937Ter
XM_017004820.1:c.97207A>T (TTN) XP_016860309.1:p.Lys32403Ter
XM_017004821.1:c.97204A>T (TTN) XP_016860310.1:p.Lys32402Ter
XM_017004822.1:c.94246A>T (TTN) XP_016860311.1:p.Lys31416Ter
XM_017004823.1:c.75862A>T (TTN) XP_016860312.1:p.Lys25288Ter
XM_024453094.1:c.97357A>T (TTN) XP_024308862.1:p.Lys32453Ter
XM_024453095.1:c.97354A>T (TTN) XP_024308863.1:p.Lys32452Ter
XM_024453096.1:c.96787A>T (TTN) XP_024308864.1:p.Lys32263Ter
XM_024453097.1:c.94129A>T (TTN) XP_024308865.1:p.Lys31377Ter
XM_024453098.1:c.94048A>T (TTN) XP_024308866.1:p.Lys31350Ter
XM_024453099.1:c.75811A>T (TTN) XP_024308867.1:p.Lys25271Ter
XM_024453100.1:c.65665A>T (TTN) XP_024308868.1:p.Lys21889Ter