Canonical Allele Identifier: CA430257634
Community Standard Title: NM_001267550.2(TTN):c.71307T>G (p.Thr23769=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178574825A>C , CM000664.2:g.178574825A>C GRCh38
NC_000002.11:g.179439552A>C , CM000664.1:g.179439552A>C GRCh37
NC_000002.10:g.179147798A>C NCBI36
NG_011618.3:g.260978T>G , LRG_391:g.260978T>G
NG_051363.1:g.56999A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.71307T>G (TTN) MANE Select NP_001254479.2:p.Thr23769=
ENST00000589042.5:c.71307T>G (TTN) MANE Select ENSP00000467141.1:p.Thr23769=
NM_001256850.1:c.66384T>G (TTN) NP_001243779.1:p.Thr22128=
NM_003319.4:c.44112T>G (TTN) NP_003310.4:p.Thr14704=
NM_133378.4:c.63603T>G (TTN) NP_596869.4:p.Thr21201=
NM_133432.3:c.44487T>G (TTN) NP_597676.3:p.Thr14829=
NM_133437.4:c.44688T>G (TTN) NP_597681.4:p.Thr14896=
NR_038271.1:n.596+3376A>C (TTN-AS1)
NR_038272.1:n.2044-7747A>C (TTN-AS1)
ENST00000342175.10:c.44688T>G (TTN) ENSP00000340554.6:p.Thr14896=
ENST00000342175.11:c.44688T>G (TTN) ENSP00000340554.6:p.Thr14896=
ENST00000342992.10:c.63603T>G (TTN) ENSP00000343764.6:p.Thr21201=
ENST00000342992.11:c.63603T>G (TTN) ENSP00000343764.6:p.Thr21201=
ENST00000359218.10:c.44487T>G (TTN) ENSP00000352154.5:p.Thr14829=
ENST00000359218.9:c.44487T>G (TTN) ENSP00000352154.5:p.Thr14829=
ENST00000460472.6:c.44112T>G (TTN) ENSP00000434586.1:p.Thr14704=
ENST00000591111.5:c.66384T>G (TTN) ENSP00000465570.1:p.Thr22128=
ENST00000615779.4:c.66384T>G (TTN) ENSP00000483597.1:p.Thr22128=
XM_011511729.1:c.70404T>G (TTN) XP_011510031.1:p.Thr23468=
XM_011511730.1:c.44298T>G (TTN) XP_011510032.1:p.Thr14766=
XM_011511731.1:c.44157T>G (TTN) XP_011510033.1:p.Thr14719=
XM_017004819.1:c.70200T>G (TTN) XP_016860308.1:p.Thr23400=
XM_017004820.1:c.65598T>G (TTN) XP_016860309.1:p.Thr21866=
XM_017004821.1:c.65595T>G (TTN) XP_016860310.1:p.Thr21865=
XM_017004822.1:c.62637T>G (TTN) XP_016860311.1:p.Thr20879=
XM_017004823.1:c.44253T>G (TTN) XP_016860312.1:p.Thr14751=
XM_024453094.1:c.65748T>G (TTN) XP_024308862.1:p.Thr21916=
XM_024453095.1:c.65745T>G (TTN) XP_024308863.1:p.Thr21915=
XM_024453096.1:c.65178T>G (TTN) XP_024308864.1:p.Thr21726=
XM_024453097.1:c.62520T>G (TTN) XP_024308865.1:p.Thr20840=
XM_024453098.1:c.62439T>G (TTN) XP_024308866.1:p.Thr20813=
XM_024453099.1:c.44202T>G (TTN) XP_024308867.1:p.Thr14734=
XM_024453100.1:c.34056T>G (TTN) XP_024308868.1:p.Thr11352=