Canonical Allele Identifier: CA60984671
Community Standard Title: NM_001267550.2(TTN):c.85458C>T (p.Tyr28486=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178560674G>A , CM000664.2:g.178560674G>A GRCh38
NC_000002.11:g.179425401G>A , CM000664.1:g.179425401G>A GRCh37
NC_000002.10:g.179133647G>A NCBI36
NG_011618.3:g.275129C>T , LRG_391:g.275129C>T
NG_051363.1:g.42848G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.85458C>T (TTN) MANE Select NP_001254479.2:p.Tyr28486=
ENST00000589042.5:c.85458C>T (TTN) MANE Select ENSP00000467141.1:p.Tyr28486=
NM_001256850.1:c.80535C>T (TTN) NP_001243779.1:p.Tyr26845=
NM_003319.4:c.58263C>T (TTN) NP_003310.4:p.Tyr19421=
NM_133378.4:c.77754C>T (TTN) NP_596869.4:p.Tyr25918=
NM_133432.3:c.58638C>T (TTN) NP_597676.3:p.Tyr19546=
NM_133437.4:c.58839C>T (TTN) NP_597681.4:p.Tyr19613=
NR_038271.1:n.447-10626G>A (TTN-AS1)
NR_038272.1:n.2043+18313G>A (TTN-AS1)
ENST00000342175.10:c.58839C>T (TTN) ENSP00000340554.6:p.Tyr19613=
ENST00000342175.11:c.58839C>T (TTN) ENSP00000340554.6:p.Tyr19613=
ENST00000342992.10:c.77754C>T (TTN) ENSP00000343764.6:p.Tyr25918=
ENST00000342992.11:c.77754C>T (TTN) ENSP00000343764.6:p.Tyr25918=
ENST00000359218.10:c.58638C>T (TTN) ENSP00000352154.5:p.Tyr19546=
ENST00000359218.9:c.58638C>T (TTN) ENSP00000352154.5:p.Tyr19546=
ENST00000460472.6:c.58263C>T (TTN) ENSP00000434586.1:p.Tyr19421=
ENST00000591111.5:c.80535C>T (TTN) ENSP00000465570.1:p.Tyr26845=
ENST00000615779.4:c.80535C>T (TTN) ENSP00000483597.1:p.Tyr26845=
XM_011511729.1:c.84555C>T (TTN) XP_011510031.1:p.Tyr28185=
XM_011511730.1:c.58449C>T (TTN) XP_011510032.1:p.Tyr19483=
XM_011511731.1:c.58308C>T (TTN) XP_011510033.1:p.Tyr19436=
XM_017004819.1:c.84351C>T (TTN) XP_016860308.1:p.Tyr28117=
XM_017004820.1:c.79749C>T (TTN) XP_016860309.1:p.Tyr26583=
XM_017004821.1:c.79746C>T (TTN) XP_016860310.1:p.Tyr26582=
XM_017004822.1:c.76788C>T (TTN) XP_016860311.1:p.Tyr25596=
XM_017004823.1:c.58404C>T (TTN) XP_016860312.1:p.Tyr19468=
XM_024453094.1:c.79899C>T (TTN) XP_024308862.1:p.Tyr26633=
XM_024453095.1:c.79896C>T (TTN) XP_024308863.1:p.Tyr26632=
XM_024453096.1:c.79329C>T (TTN) XP_024308864.1:p.Tyr26443=
XM_024453097.1:c.76671C>T (TTN) XP_024308865.1:p.Tyr25557=
XM_024453098.1:c.76590C>T (TTN) XP_024308866.1:p.Tyr25530=
XM_024453099.1:c.58353C>T (TTN) XP_024308867.1:p.Tyr19451=
XM_024453100.1:c.48207C>T (TTN) XP_024308868.1:p.Tyr16069=