Canonical Allele Identifier: CA430266451
Community Standard Title: NM_001267550.2(TTN):c.61161A>G (p.Thr20387=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178590564T>C , CM000664.2:g.178590564T>C GRCh38
NC_000002.11:g.179455291T>C , CM000664.1:g.179455291T>C GRCh37
NC_000002.10:g.179163537T>C NCBI36
NG_011618.3:g.245239A>G , LRG_391:g.245239A>G
NG_051363.1:g.72738T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.61161A>G (TTN) MANE Select NP_001254479.2:p.Thr20387=
ENST00000589042.5:c.61161A>G (TTN) MANE Select ENSP00000467141.1:p.Thr20387=
NM_001256850.1:c.56238A>G (TTN) NP_001243779.1:p.Thr18746=
NM_003319.4:c.33966A>G (TTN) NP_003310.4:p.Thr11322=
NM_133378.4:c.53457A>G (TTN) NP_596869.4:p.Thr17819=
NM_133432.3:c.34341A>G (TTN) NP_597676.3:p.Thr11447=
NM_133437.4:c.34542A>G (TTN) NP_597681.4:p.Thr11514=
NR_038271.1:n.597-7032T>C (TTN-AS1)
NR_038272.1:n.3189-575T>C (TTN-AS1)
ENST00000342175.10:c.34542A>G (TTN) ENSP00000340554.6:p.Thr11514=
ENST00000342175.11:c.34542A>G (TTN) ENSP00000340554.6:p.Thr11514=
ENST00000342992.10:c.53457A>G (TTN) ENSP00000343764.6:p.Thr17819=
ENST00000342992.11:c.53457A>G (TTN) ENSP00000343764.6:p.Thr17819=
ENST00000359218.10:c.34341A>G (TTN) ENSP00000352154.5:p.Thr11447=
ENST00000359218.9:c.34341A>G (TTN) ENSP00000352154.5:p.Thr11447=
ENST00000460472.6:c.33966A>G (TTN) ENSP00000434586.1:p.Thr11322=
ENST00000591111.5:c.56238A>G (TTN) ENSP00000465570.1:p.Thr18746=
ENST00000615779.4:c.56238A>G (TTN) ENSP00000483597.1:p.Thr18746=
XM_011511729.1:c.60258A>G (TTN) XP_011510031.1:p.Thr20086=
XM_011511730.1:c.34152A>G (TTN) XP_011510032.1:p.Thr11384=
XM_011511731.1:c.34011A>G (TTN) XP_011510033.1:p.Thr11337=
XM_017004819.1:c.60054A>G (TTN) XP_016860308.1:p.Thr20018=
XM_017004820.1:c.55452A>G (TTN) XP_016860309.1:p.Thr18484=
XM_017004821.1:c.55449A>G (TTN) XP_016860310.1:p.Thr18483=
XM_017004822.1:c.52491A>G (TTN) XP_016860311.1:p.Thr17497=
XM_017004823.1:c.34107A>G (TTN) XP_016860312.1:p.Thr11369=
XM_024453094.1:c.55602A>G (TTN) XP_024308862.1:p.Thr18534=
XM_024453095.1:c.55599A>G (TTN) XP_024308863.1:p.Thr18533=
XM_024453096.1:c.55032A>G (TTN) XP_024308864.1:p.Thr18344=
XM_024453097.1:c.52374A>G (TTN) XP_024308865.1:p.Thr17458=
XM_024453098.1:c.52293A>G (TTN) XP_024308866.1:p.Thr17431=
XM_024453099.1:c.34056A>G (TTN) XP_024308867.1:p.Thr11352=
XM_024453100.1:c.23910A>G (TTN) XP_024308868.1:p.Thr7970=