Canonical Allele Identifier: CA1986528
Community Standard Title: NM_001267550.2(TTN):c.97539T>C (p.Arg32513=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178541538A>G , CM000664.2:g.178541538A>G GRCh38
NC_000002.11:g.179406265A>G , CM000664.1:g.179406265A>G GRCh37
NC_000002.10:g.179114511A>G NCBI36
NG_011618.3:g.294265T>C , LRG_391:g.294265T>C
NG_051363.1:g.23712A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.97539T>C (TTN) MANE Select NP_001254479.2:p.Arg32513=
ENST00000589042.5:c.97539T>C (TTN) MANE Select ENSP00000467141.1:p.Arg32513=
NM_001256850.1:c.92616T>C (TTN) NP_001243779.1:p.Arg30872=
NM_003319.4:c.70344T>C (TTN) NP_003310.4:p.Arg23448=
NM_133378.4:c.89835T>C (TTN) NP_596869.4:p.Arg29945=
NM_133432.3:c.70719T>C (TTN) NP_597676.3:p.Arg23573=
NM_133437.4:c.70920T>C (TTN) NP_597681.4:p.Arg23640=
NR_038271.1:n.446+17902A>G (TTN-AS1)
NR_038272.1:n.1904-684A>G (TTN-AS1)
ENST00000342175.10:c.70920T>C (TTN) ENSP00000340554.6:p.Arg23640=
ENST00000342175.11:c.70920T>C (TTN) ENSP00000340554.6:p.Arg23640=
ENST00000342992.10:c.89835T>C (TTN) ENSP00000343764.6:p.Arg29945=
ENST00000342992.11:c.89835T>C (TTN) ENSP00000343764.6:p.Arg29945=
ENST00000359218.10:c.70719T>C (TTN) ENSP00000352154.5:p.Arg23573=
ENST00000359218.9:c.70719T>C (TTN) ENSP00000352154.5:p.Arg23573=
ENST00000460472.6:c.70344T>C (TTN) ENSP00000434586.1:p.Arg23448=
ENST00000591111.5:c.92616T>C (TTN) ENSP00000465570.1:p.Arg30872=
ENST00000615779.4:c.92616T>C (TTN) ENSP00000483597.1:p.Arg30872=
XM_011511729.1:c.96636T>C (TTN) XP_011510031.1:p.Arg32212=
XM_011511730.1:c.70530T>C (TTN) XP_011510032.1:p.Arg23510=
XM_011511731.1:c.70389T>C (TTN) XP_011510033.1:p.Arg23463=
XM_017004819.1:c.96432T>C (TTN) XP_016860308.1:p.Arg32144=
XM_017004820.1:c.91830T>C (TTN) XP_016860309.1:p.Arg30610=
XM_017004821.1:c.91827T>C (TTN) XP_016860310.1:p.Arg30609=
XM_017004822.1:c.88869T>C (TTN) XP_016860311.1:p.Arg29623=
XM_017004823.1:c.70485T>C (TTN) XP_016860312.1:p.Arg23495=
XM_024453094.1:c.91980T>C (TTN) XP_024308862.1:p.Arg30660=
XM_024453095.1:c.91977T>C (TTN) XP_024308863.1:p.Arg30659=
XM_024453096.1:c.91410T>C (TTN) XP_024308864.1:p.Arg30470=
XM_024453097.1:c.88752T>C (TTN) XP_024308865.1:p.Arg29584=
XM_024453098.1:c.88671T>C (TTN) XP_024308866.1:p.Arg29557=
XM_024453099.1:c.70434T>C (TTN) XP_024308867.1:p.Arg23478=
XM_024453100.1:c.60288T>C (TTN) XP_024308868.1:p.Arg20096=