Canonical Allele Identifier: CA60956837
Community Standard Title: NM_001267550.2(TTN):c.103771C>T (p.Arg34591Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532844G>A , CM000664.2:g.178532844G>A GRCh38
NC_000002.11:g.179397571G>A , CM000664.1:g.179397571G>A GRCh37
NC_000002.10:g.179105817G>A NCBI36
NG_011618.3:g.302959C>T , LRG_391:g.302959C>T
NG_051363.1:g.15018G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.103771C>T (TTN) MANE Select NP_001254479.2:p.Arg34591Ter
ENST00000589042.5:c.103771C>T (TTN) MANE Select ENSP00000467141.1:p.Arg34591Ter
NM_001256850.1:c.98848C>T (TTN) NP_001243779.1:p.Arg32950Ter
NM_003319.4:c.76576C>T (TTN) NP_003310.4:p.Arg25526Ter
NM_133378.4:c.96067C>T (TTN) NP_596869.4:p.Arg32023Ter
NM_133432.3:c.76951C>T (TTN) NP_597676.3:p.Arg25651Ter
NM_133437.4:c.77152C>T (TTN) NP_597681.4:p.Arg25718Ter
NR_038271.1:n.446+9208G>A (TTN-AS1)
NR_038272.1:n.220-2888G>A (TTN-AS1)
ENST00000342175.10:c.77152C>T (TTN) ENSP00000340554.6:p.Arg25718Ter
ENST00000342175.11:c.77152C>T (TTN) ENSP00000340554.6:p.Arg25718Ter
ENST00000342992.10:c.96067C>T (TTN) ENSP00000343764.6:p.Arg32023Ter
ENST00000342992.11:c.96067C>T (TTN) ENSP00000343764.6:p.Arg32023Ter
ENST00000359218.10:c.76951C>T (TTN) ENSP00000352154.5:p.Arg25651Ter
ENST00000359218.9:c.76951C>T (TTN) ENSP00000352154.5:p.Arg25651Ter
ENST00000460472.6:c.76576C>T (TTN) ENSP00000434586.1:p.Arg25526Ter
ENST00000591111.5:c.98848C>T (TTN) ENSP00000465570.1:p.Arg32950Ter
ENST00000615779.4:c.98848C>T (TTN) ENSP00000483597.1:p.Arg32950Ter
XM_011511729.1:c.102868C>T (TTN) XP_011510031.1:p.Arg34290Ter
XM_011511730.1:c.76762C>T (TTN) XP_011510032.1:p.Arg25588Ter
XM_011511731.1:c.76621C>T (TTN) XP_011510033.1:p.Arg25541Ter
XM_017004819.1:c.102664C>T (TTN) XP_016860308.1:p.Arg34222Ter
XM_017004820.1:c.98062C>T (TTN) XP_016860309.1:p.Arg32688Ter
XM_017004821.1:c.98059C>T (TTN) XP_016860310.1:p.Arg32687Ter
XM_017004822.1:c.95101C>T (TTN) XP_016860311.1:p.Arg31701Ter
XM_017004823.1:c.76717C>T (TTN) XP_016860312.1:p.Arg25573Ter
XM_024453094.1:c.98212C>T (TTN) XP_024308862.1:p.Arg32738Ter
XM_024453095.1:c.98209C>T (TTN) XP_024308863.1:p.Arg32737Ter
XM_024453096.1:c.97642C>T (TTN) XP_024308864.1:p.Arg32548Ter
XM_024453097.1:c.94984C>T (TTN) XP_024308865.1:p.Arg31662Ter
XM_024453098.1:c.94903C>T (TTN) XP_024308866.1:p.Arg31635Ter
XM_024453099.1:c.76666C>T (TTN) XP_024308867.1:p.Arg25556Ter
XM_024453100.1:c.66520C>T (TTN) XP_024308868.1:p.Arg22174Ter