Canonical Allele Identifier: CA430270626
Community Standard Title: NM_001267550.2(TTN):c.53280A>G (p.Glu17760=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178607408T>C , CM000664.2:g.178607408T>C GRCh38
NC_000002.11:g.179472135T>C , CM000664.1:g.179472135T>C GRCh37
NC_000002.10:g.179180380T>C NCBI36
NG_011618.3:g.228395A>G , LRG_391:g.228395A>G
NG_051363.1:g.89582T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.53280A>G (TTN) MANE Select NP_001254479.2:p.Glu17760=
ENST00000589042.5:c.53280A>G (TTN) MANE Select ENSP00000467141.1:p.Glu17760=
NM_001256850.1:c.48357A>G (TTN) NP_001243779.1:p.Glu16119=
NM_003319.4:c.26085A>G (TTN) NP_003310.4:p.Glu8695=
NM_133378.4:c.45576A>G (TTN) NP_596869.4:p.Glu15192=
NM_133432.3:c.26460A>G (TTN) NP_597676.3:p.Glu8820=
NM_133437.4:c.26661A>G (TTN) NP_597681.4:p.Glu8887=
NR_038271.1:n.683-759T>C (TTN-AS1)
ENST00000342175.10:c.26661A>G (TTN) ENSP00000340554.6:p.Glu8887=
ENST00000342175.11:c.26661A>G (TTN) ENSP00000340554.6:p.Glu8887=
ENST00000342992.10:c.45576A>G (TTN) ENSP00000343764.6:p.Glu15192=
ENST00000342992.11:c.45576A>G (TTN) ENSP00000343764.6:p.Glu15192=
ENST00000359218.10:c.26460A>G (TTN) ENSP00000352154.5:p.Glu8820=
ENST00000359218.9:c.26460A>G (TTN) ENSP00000352154.5:p.Glu8820=
ENST00000460472.6:c.26085A>G (TTN) ENSP00000434586.1:p.Glu8695=
ENST00000591111.5:c.48357A>G (TTN) ENSP00000465570.1:p.Glu16119=
ENST00000615779.4:c.48357A>G (TTN) ENSP00000483597.1:p.Glu16119=
XM_011511729.1:c.52377A>G (TTN) XP_011510031.1:p.Glu17459=
XM_011511730.1:c.26271A>G (TTN) XP_011510032.1:p.Glu8757=
XM_011511731.1:c.26130A>G (TTN) XP_011510033.1:p.Glu8710=
XM_017004819.1:c.52173A>G (TTN) XP_016860308.1:p.Glu17391=
XM_017004820.1:c.47571A>G (TTN) XP_016860309.1:p.Glu15857=
XM_017004821.1:c.47568A>G (TTN) XP_016860310.1:p.Glu15856=
XM_017004822.1:c.44610A>G (TTN) XP_016860311.1:p.Glu14870=
XM_017004823.1:c.26226A>G (TTN) XP_016860312.1:p.Glu8742=
XM_024453094.1:c.47721A>G (TTN) XP_024308862.1:p.Glu15907=
XM_024453095.1:c.47718A>G (TTN) XP_024308863.1:p.Glu15906=
XM_024453096.1:c.47151A>G (TTN) XP_024308864.1:p.Glu15717=
XM_024453097.1:c.44493A>G (TTN) XP_024308865.1:p.Glu14831=
XM_024453098.1:c.44412A>G (TTN) XP_024308866.1:p.Glu14804=
XM_024453099.1:c.26175A>G (TTN) XP_024308867.1:p.Glu8725=
XM_024453100.1:c.16029A>G (TTN) XP_024308868.1:p.Glu5343=