Canonical Allele Identifier: CA1988908
Community Standard Title: NM_001267550.2(TTN):c.83526T>G (p.Ala27842=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178562606A>C , CM000664.2:g.178562606A>C GRCh38
NC_000002.11:g.179427333A>C , CM000664.1:g.179427333A>C GRCh37
NC_000002.10:g.179135579A>C NCBI36
NG_011618.3:g.273197T>G , LRG_391:g.273197T>G
NG_051363.1:g.44780A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.83526T>G (TTN) MANE Select NP_001254479.2:p.Ala27842=
ENST00000589042.5:c.83526T>G (TTN) MANE Select ENSP00000467141.1:p.Ala27842=
NM_001256850.1:c.78603T>G (TTN) NP_001243779.1:p.Ala26201=
NM_003319.4:c.56331T>G (TTN) NP_003310.4:p.Ala18777=
NM_133378.4:c.75822T>G (TTN) NP_596869.4:p.Ala25274=
NM_133432.3:c.56706T>G (TTN) NP_597676.3:p.Ala18902=
NM_133437.4:c.56907T>G (TTN) NP_597681.4:p.Ala18969=
NR_038271.1:n.447-8694A>C (TTN-AS1)
NR_038272.1:n.2044-19966A>C (TTN-AS1)
ENST00000342175.10:c.56907T>G (TTN) ENSP00000340554.6:p.Ala18969=
ENST00000342175.11:c.56907T>G (TTN) ENSP00000340554.6:p.Ala18969=
ENST00000342992.10:c.75822T>G (TTN) ENSP00000343764.6:p.Ala25274=
ENST00000342992.11:c.75822T>G (TTN) ENSP00000343764.6:p.Ala25274=
ENST00000359218.10:c.56706T>G (TTN) ENSP00000352154.5:p.Ala18902=
ENST00000359218.9:c.56706T>G (TTN) ENSP00000352154.5:p.Ala18902=
ENST00000460472.6:c.56331T>G (TTN) ENSP00000434586.1:p.Ala18777=
ENST00000591111.5:c.78603T>G (TTN) ENSP00000465570.1:p.Ala26201=
ENST00000615779.4:c.78603T>G (TTN) ENSP00000483597.1:p.Ala26201=
XM_011511729.1:c.82623T>G (TTN) XP_011510031.1:p.Ala27541=
XM_011511730.1:c.56517T>G (TTN) XP_011510032.1:p.Ala18839=
XM_011511731.1:c.56376T>G (TTN) XP_011510033.1:p.Ala18792=
XM_017004819.1:c.82419T>G (TTN) XP_016860308.1:p.Ala27473=
XM_017004820.1:c.77817T>G (TTN) XP_016860309.1:p.Ala25939=
XM_017004821.1:c.77814T>G (TTN) XP_016860310.1:p.Ala25938=
XM_017004822.1:c.74856T>G (TTN) XP_016860311.1:p.Ala24952=
XM_017004823.1:c.56472T>G (TTN) XP_016860312.1:p.Ala18824=
XM_024453094.1:c.77967T>G (TTN) XP_024308862.1:p.Ala25989=
XM_024453095.1:c.77964T>G (TTN) XP_024308863.1:p.Ala25988=
XM_024453096.1:c.77397T>G (TTN) XP_024308864.1:p.Ala25799=
XM_024453097.1:c.74739T>G (TTN) XP_024308865.1:p.Ala24913=
XM_024453098.1:c.74658T>G (TTN) XP_024308866.1:p.Ala24886=
XM_024453099.1:c.56421T>G (TTN) XP_024308867.1:p.Ala18807=
XM_024453100.1:c.46275T>G (TTN) XP_024308868.1:p.Ala15425=