Canonical Allele Identifier: CA349559068
Community Standard Title: NM_001267550.2(TTN):c.84607A>T (p.Lys28203Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178561525T>A , CM000664.2:g.178561525T>A GRCh38
NC_000002.11:g.179426252T>A , CM000664.1:g.179426252T>A GRCh37
NC_000002.10:g.179134498T>A NCBI36
NG_011618.3:g.274278A>T , LRG_391:g.274278A>T
NG_051363.1:g.43699T>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.84607A>T (TTN) MANE Select NP_001254479.2:p.Lys28203Ter
ENST00000589042.5:c.84607A>T (TTN) MANE Select ENSP00000467141.1:p.Lys28203Ter
NM_001256850.1:c.79684A>T (TTN) NP_001243779.1:p.Lys26562Ter
NM_003319.4:c.57412A>T (TTN) NP_003310.4:p.Lys19138Ter
NM_133378.4:c.76903A>T (TTN) NP_596869.4:p.Lys25635Ter
NM_133432.3:c.57787A>T (TTN) NP_597676.3:p.Lys19263Ter
NM_133437.4:c.57988A>T (TTN) NP_597681.4:p.Lys19330Ter
NR_038271.1:n.447-9775T>A (TTN-AS1)
NR_038272.1:n.2043+19164T>A (TTN-AS1)
ENST00000342175.10:c.57988A>T (TTN) ENSP00000340554.6:p.Lys19330Ter
ENST00000342175.11:c.57988A>T (TTN) ENSP00000340554.6:p.Lys19330Ter
ENST00000342992.10:c.76903A>T (TTN) ENSP00000343764.6:p.Lys25635Ter
ENST00000342992.11:c.76903A>T (TTN) ENSP00000343764.6:p.Lys25635Ter
ENST00000359218.10:c.57787A>T (TTN) ENSP00000352154.5:p.Lys19263Ter
ENST00000359218.9:c.57787A>T (TTN) ENSP00000352154.5:p.Lys19263Ter
ENST00000460472.6:c.57412A>T (TTN) ENSP00000434586.1:p.Lys19138Ter
ENST00000591111.5:c.79684A>T (TTN) ENSP00000465570.1:p.Lys26562Ter
ENST00000615779.4:c.79684A>T (TTN) ENSP00000483597.1:p.Lys26562Ter
XM_011511729.1:c.83704A>T (TTN) XP_011510031.1:p.Lys27902Ter
XM_011511730.1:c.57598A>T (TTN) XP_011510032.1:p.Lys19200Ter
XM_011511731.1:c.57457A>T (TTN) XP_011510033.1:p.Lys19153Ter
XM_017004819.1:c.83500A>T (TTN) XP_016860308.1:p.Lys27834Ter
XM_017004820.1:c.78898A>T (TTN) XP_016860309.1:p.Lys26300Ter
XM_017004821.1:c.78895A>T (TTN) XP_016860310.1:p.Lys26299Ter
XM_017004822.1:c.75937A>T (TTN) XP_016860311.1:p.Lys25313Ter
XM_017004823.1:c.57553A>T (TTN) XP_016860312.1:p.Lys19185Ter
XM_024453094.1:c.79048A>T (TTN) XP_024308862.1:p.Lys26350Ter
XM_024453095.1:c.79045A>T (TTN) XP_024308863.1:p.Lys26349Ter
XM_024453096.1:c.78478A>T (TTN) XP_024308864.1:p.Lys26160Ter
XM_024453097.1:c.75820A>T (TTN) XP_024308865.1:p.Lys25274Ter
XM_024453098.1:c.75739A>T (TTN) XP_024308866.1:p.Lys25247Ter
XM_024453099.1:c.57502A>T (TTN) XP_024308867.1:p.Lys19168Ter
XM_024453100.1:c.47356A>T (TTN) XP_024308868.1:p.Lys15786Ter