Canonical Allele Identifier: CA1988640
Community Standard Title: NM_001267550.2(TTN):c.85450G>T (p.Asp28484Tyr)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178560682C>A , CM000664.2:g.178560682C>A GRCh38
NC_000002.11:g.179425409C>A , CM000664.1:g.179425409C>A GRCh37
NC_000002.10:g.179133655C>A NCBI36
NG_011618.3:g.275121G>T , LRG_391:g.275121G>T
NG_051363.1:g.42856C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.85450G>T (TTN) MANE Select NP_001254479.2:p.Asp28484Tyr
ENST00000589042.5:c.85450G>T (TTN) MANE Select ENSP00000467141.1:p.Asp28484Tyr
NM_001256850.1:c.80527G>T (TTN) NP_001243779.1:p.Asp26843Tyr
NM_003319.4:c.58255G>T (TTN) NP_003310.4:p.Asp19419Tyr
NM_133378.4:c.77746G>T (TTN) NP_596869.4:p.Asp25916Tyr
NM_133432.3:c.58630G>T (TTN) NP_597676.3:p.Asp19544Tyr
NM_133437.4:c.58831G>T (TTN) NP_597681.4:p.Asp19611Tyr
NR_038271.1:n.447-10618C>A (TTN-AS1)
NR_038272.1:n.2043+18321C>A (TTN-AS1)
ENST00000342175.10:c.58831G>T (TTN) ENSP00000340554.6:p.Asp19611Tyr
ENST00000342175.11:c.58831G>T (TTN) ENSP00000340554.6:p.Asp19611Tyr
ENST00000342992.10:c.77746G>T (TTN) ENSP00000343764.6:p.Asp25916Tyr
ENST00000342992.11:c.77746G>T (TTN) ENSP00000343764.6:p.Asp25916Tyr
ENST00000359218.10:c.58630G>T (TTN) ENSP00000352154.5:p.Asp19544Tyr
ENST00000359218.9:c.58630G>T (TTN) ENSP00000352154.5:p.Asp19544Tyr
ENST00000460472.6:c.58255G>T (TTN) ENSP00000434586.1:p.Asp19419Tyr
ENST00000591111.5:c.80527G>T (TTN) ENSP00000465570.1:p.Asp26843Tyr
ENST00000615779.4:c.80527G>T (TTN) ENSP00000483597.1:p.Asp26843Tyr
XM_011511729.1:c.84547G>T (TTN) XP_011510031.1:p.Asp28183Tyr
XM_011511730.1:c.58441G>T (TTN) XP_011510032.1:p.Asp19481Tyr
XM_011511731.1:c.58300G>T (TTN) XP_011510033.1:p.Asp19434Tyr
XM_017004819.1:c.84343G>T (TTN) XP_016860308.1:p.Asp28115Tyr
XM_017004820.1:c.79741G>T (TTN) XP_016860309.1:p.Asp26581Tyr
XM_017004821.1:c.79738G>T (TTN) XP_016860310.1:p.Asp26580Tyr
XM_017004822.1:c.76780G>T (TTN) XP_016860311.1:p.Asp25594Tyr
XM_017004823.1:c.58396G>T (TTN) XP_016860312.1:p.Asp19466Tyr
XM_024453094.1:c.79891G>T (TTN) XP_024308862.1:p.Asp26631Tyr
XM_024453095.1:c.79888G>T (TTN) XP_024308863.1:p.Asp26630Tyr
XM_024453096.1:c.79321G>T (TTN) XP_024308864.1:p.Asp26441Tyr
XM_024453097.1:c.76663G>T (TTN) XP_024308865.1:p.Asp25555Tyr
XM_024453098.1:c.76582G>T (TTN) XP_024308866.1:p.Asp25528Tyr
XM_024453099.1:c.58345G>T (TTN) XP_024308867.1:p.Asp19449Tyr
XM_024453100.1:c.48199G>T (TTN) XP_024308868.1:p.Asp16067Tyr