Canonical Allele Identifier: CA1987024
Community Standard Title: NM_001267550.2(TTN):c.95082C>T (p.Ser31694=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178546249G>A , CM000664.2:g.178546249G>A GRCh38
NC_000002.11:g.179410976G>A , CM000664.1:g.179410976G>A GRCh37
NC_000002.10:g.179119222G>A NCBI36
NG_011618.3:g.289554C>T , LRG_391:g.289554C>T
NG_051363.1:g.28423G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.95082C>T (TTN) MANE Select NP_001254479.2:p.Ser31694=
ENST00000589042.5:c.95082C>T (TTN) MANE Select ENSP00000467141.1:p.Ser31694=
NM_001256850.1:c.90159C>T (TTN) NP_001243779.1:p.Ser30053=
NM_003319.4:c.67887C>T (TTN) NP_003310.4:p.Ser22629=
NM_133378.4:c.87378C>T (TTN) NP_596869.4:p.Ser29126=
NM_133432.3:c.68262C>T (TTN) NP_597676.3:p.Ser22754=
NM_133437.4:c.68463C>T (TTN) NP_597681.4:p.Ser22821=
NR_038271.1:n.446+22613G>A (TTN-AS1)
NR_038272.1:n.2043+3888G>A (TTN-AS1)
ENST00000342175.10:c.68463C>T (TTN) ENSP00000340554.6:p.Ser22821=
ENST00000342175.11:c.68463C>T (TTN) ENSP00000340554.6:p.Ser22821=
ENST00000342992.10:c.87378C>T (TTN) ENSP00000343764.6:p.Ser29126=
ENST00000342992.11:c.87378C>T (TTN) ENSP00000343764.6:p.Ser29126=
ENST00000359218.10:c.68262C>T (TTN) ENSP00000352154.5:p.Ser22754=
ENST00000359218.9:c.68262C>T (TTN) ENSP00000352154.5:p.Ser22754=
ENST00000460472.6:c.67887C>T (TTN) ENSP00000434586.1:p.Ser22629=
ENST00000591111.5:c.90159C>T (TTN) ENSP00000465570.1:p.Ser30053=
ENST00000615779.4:c.90159C>T (TTN) ENSP00000483597.1:p.Ser30053=
XM_011511729.1:c.94179C>T (TTN) XP_011510031.1:p.Ser31393=
XM_011511730.1:c.68073C>T (TTN) XP_011510032.1:p.Ser22691=
XM_011511731.1:c.67932C>T (TTN) XP_011510033.1:p.Ser22644=
XM_017004819.1:c.93975C>T (TTN) XP_016860308.1:p.Ser31325=
XM_017004820.1:c.89373C>T (TTN) XP_016860309.1:p.Ser29791=
XM_017004821.1:c.89370C>T (TTN) XP_016860310.1:p.Ser29790=
XM_017004822.1:c.86412C>T (TTN) XP_016860311.1:p.Ser28804=
XM_017004823.1:c.68028C>T (TTN) XP_016860312.1:p.Ser22676=
XM_024453094.1:c.89523C>T (TTN) XP_024308862.1:p.Ser29841=
XM_024453095.1:c.89520C>T (TTN) XP_024308863.1:p.Ser29840=
XM_024453096.1:c.88953C>T (TTN) XP_024308864.1:p.Ser29651=
XM_024453097.1:c.86295C>T (TTN) XP_024308865.1:p.Ser28765=
XM_024453098.1:c.86214C>T (TTN) XP_024308866.1:p.Ser28738=
XM_024453099.1:c.67977C>T (TTN) XP_024308867.1:p.Ser22659=
XM_024453100.1:c.57831C>T (TTN) XP_024308868.1:p.Ser19277=