Canonical Allele Identifier: CA60985053
Community Standard Title: NM_001267550.2(TTN):c.84681T>C (p.Tyr28227=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178561451A>G , CM000664.2:g.178561451A>G GRCh38
NC_000002.11:g.179426178A>G , CM000664.1:g.179426178A>G GRCh37
NC_000002.10:g.179134424A>G NCBI36
NG_011618.3:g.274352T>C , LRG_391:g.274352T>C
NG_051363.1:g.43625A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.84681T>C (TTN) MANE Select NP_001254479.2:p.Tyr28227=
ENST00000589042.5:c.84681T>C (TTN) MANE Select ENSP00000467141.1:p.Tyr28227=
NM_001256850.1:c.79758T>C (TTN) NP_001243779.1:p.Tyr26586=
NM_003319.4:c.57486T>C (TTN) NP_003310.4:p.Tyr19162=
NM_133378.4:c.76977T>C (TTN) NP_596869.4:p.Tyr25659=
NM_133432.3:c.57861T>C (TTN) NP_597676.3:p.Tyr19287=
NM_133437.4:c.58062T>C (TTN) NP_597681.4:p.Tyr19354=
NR_038271.1:n.447-9849A>G (TTN-AS1)
NR_038272.1:n.2043+19090A>G (TTN-AS1)
ENST00000342175.10:c.58062T>C (TTN) ENSP00000340554.6:p.Tyr19354=
ENST00000342175.11:c.58062T>C (TTN) ENSP00000340554.6:p.Tyr19354=
ENST00000342992.10:c.76977T>C (TTN) ENSP00000343764.6:p.Tyr25659=
ENST00000342992.11:c.76977T>C (TTN) ENSP00000343764.6:p.Tyr25659=
ENST00000359218.10:c.57861T>C (TTN) ENSP00000352154.5:p.Tyr19287=
ENST00000359218.9:c.57861T>C (TTN) ENSP00000352154.5:p.Tyr19287=
ENST00000460472.6:c.57486T>C (TTN) ENSP00000434586.1:p.Tyr19162=
ENST00000591111.5:c.79758T>C (TTN) ENSP00000465570.1:p.Tyr26586=
ENST00000615779.4:c.79758T>C (TTN) ENSP00000483597.1:p.Tyr26586=
XM_011511729.1:c.83778T>C (TTN) XP_011510031.1:p.Tyr27926=
XM_011511730.1:c.57672T>C (TTN) XP_011510032.1:p.Tyr19224=
XM_011511731.1:c.57531T>C (TTN) XP_011510033.1:p.Tyr19177=
XM_017004819.1:c.83574T>C (TTN) XP_016860308.1:p.Tyr27858=
XM_017004820.1:c.78972T>C (TTN) XP_016860309.1:p.Tyr26324=
XM_017004821.1:c.78969T>C (TTN) XP_016860310.1:p.Tyr26323=
XM_017004822.1:c.76011T>C (TTN) XP_016860311.1:p.Tyr25337=
XM_017004823.1:c.57627T>C (TTN) XP_016860312.1:p.Tyr19209=
XM_024453094.1:c.79122T>C (TTN) XP_024308862.1:p.Tyr26374=
XM_024453095.1:c.79119T>C (TTN) XP_024308863.1:p.Tyr26373=
XM_024453096.1:c.78552T>C (TTN) XP_024308864.1:p.Tyr26184=
XM_024453097.1:c.75894T>C (TTN) XP_024308865.1:p.Tyr25298=
XM_024453098.1:c.75813T>C (TTN) XP_024308866.1:p.Tyr25271=
XM_024453099.1:c.57576T>C (TTN) XP_024308867.1:p.Tyr19192=
XM_024453100.1:c.47430T>C (TTN) XP_024308868.1:p.Tyr15810=