Canonical Allele Identifier: CA349458203

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544479C>G , CM000664.2:g.178544479C>G GRCh38
NC_000002.11:g.179409206C>G , CM000664.1:g.179409206C>G GRCh37
NC_000002.10:g.179117452C>G NCBI36
NG_011618.3:g.291324G>C , LRG_391:g.291324G>C
NG_051363.1:g.26653C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88046G>C (TTN) ENSP00000343764.6:p.Arg29349Thr
ENST00000342175.11:c.69131G>C (TTN) ENSP00000340554.6:p.Arg23044Thr
ENST00000359218.10:c.68930G>C (TTN) ENSP00000352154.5:p.Arg22977Thr
ENST00000342175.10:c.69131G>C (TTN) ENSP00000340554.6:p.Arg23044Thr
ENST00000342992.10:c.88046G>C (TTN) ENSP00000343764.6:p.Arg29349Thr
ENST00000359218.9:c.68930G>C (TTN) ENSP00000352154.5:p.Arg22977Thr
ENST00000460472.6:c.68555G>C (TTN) ENSP00000434586.1:p.Arg22852Thr
ENST00000589042.5:c.95750G>C (TTN) MANE Select ENSP00000467141.1:p.Arg31917Thr
ENST00000591111.5:c.90827G>C (TTN) ENSP00000465570.1:p.Arg30276Thr
ENST00000615779.4:c.90827G>C (TTN) ENSP00000483597.1:p.Arg30276Thr
NM_001256850.1:c.90827G>C (TTN) NP_001243779.1:p.Arg30276Thr
NM_001267550.2:c.95750G>C (TTN) MANE Select NP_001254479.2:p.Arg31917Thr
NM_003319.4:c.68555G>C (TTN) NP_003310.4:p.Arg22852Thr
NM_133378.4:c.88046G>C (TTN) NP_596869.4:p.Arg29349Thr
NM_133432.3:c.68930G>C (TTN) NP_597676.3:p.Arg22977Thr
NM_133437.4:c.69131G>C (TTN) NP_597681.4:p.Arg23044Thr
NR_038271.1:n.446+20843C>G (TTN-AS1)
NR_038272.1:n.2043+2118C>G (TTN-AS1)
XM_011511729.1:c.94847G>C (TTN) XP_011510031.1:p.Arg31616Thr
XM_011511730.1:c.68741G>C (TTN) XP_011510032.1:p.Arg22914Thr
XM_011511731.1:c.68600G>C (TTN) XP_011510033.1:p.Arg22867Thr
XM_017004819.1:c.94643G>C (TTN) XP_016860308.1:p.Arg31548Thr
XM_017004820.1:c.90041G>C (TTN) XP_016860309.1:p.Arg30014Thr
XM_017004821.1:c.90038G>C (TTN) XP_016860310.1:p.Arg30013Thr
XM_017004822.1:c.87080G>C (TTN) XP_016860311.1:p.Arg29027Thr
XM_017004823.1:c.68696G>C (TTN) XP_016860312.1:p.Arg22899Thr
XM_024453094.1:c.90191G>C (TTN) XP_024308862.1:p.Arg30064Thr
XM_024453095.1:c.90188G>C (TTN) XP_024308863.1:p.Arg30063Thr
XM_024453096.1:c.89621G>C (TTN) XP_024308864.1:p.Arg29874Thr
XM_024453097.1:c.86963G>C (TTN) XP_024308865.1:p.Arg28988Thr
XM_024453098.1:c.86882G>C (TTN) XP_024308866.1:p.Arg28961Thr
XM_024453099.1:c.68645G>C (TTN) XP_024308867.1:p.Arg22882Thr
XM_024453100.1:c.58499G>C (TTN) XP_024308868.1:p.Arg19500Thr