Canonical Allele Identifier: CA349435491

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178584486T>G , CM000664.2:g.178584486T>G GRCh38
NC_000002.11:g.179449213T>G , CM000664.1:g.179449213T>G GRCh37
NC_000002.10:g.179157459T>G NCBI36
NG_011618.3:g.251317A>C , LRG_391:g.251317A>C
NG_051363.1:g.66660T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.57361A>C (TTN) ENSP00000343764.6:p.Ser19121Arg
ENST00000342175.11:c.38446A>C (TTN) ENSP00000340554.6:p.Ser12816Arg
ENST00000359218.10:c.38245A>C (TTN) ENSP00000352154.5:p.Ser12749Arg
ENST00000342175.10:c.38446A>C (TTN) ENSP00000340554.6:p.Ser12816Arg
ENST00000342992.10:c.57361A>C (TTN) ENSP00000343764.6:p.Ser19121Arg
ENST00000359218.9:c.38245A>C (TTN) ENSP00000352154.5:p.Ser12749Arg
ENST00000460472.6:c.37870A>C (TTN) ENSP00000434586.1:p.Ser12624Arg
ENST00000589042.5:c.65065A>C (TTN) MANE Select ENSP00000467141.1:p.Ser21689Arg
ENST00000591111.5:c.60142A>C (TTN) ENSP00000465570.1:p.Ser20048Arg
ENST00000615779.4:c.60142A>C (TTN) ENSP00000483597.1:p.Ser20048Arg
NM_001256850.1:c.60142A>C (TTN) NP_001243779.1:p.Ser20048Arg
NM_001267550.2:c.65065A>C (TTN) MANE Select NP_001254479.2:p.Ser21689Arg
NM_003319.4:c.37870A>C (TTN) NP_003310.4:p.Ser12624Arg
NM_133378.4:c.57361A>C (TTN) NP_596869.4:p.Ser19121Arg
NM_133432.3:c.38245A>C (TTN) NP_597676.3:p.Ser12749Arg
NM_133437.4:c.38446A>C (TTN) NP_597681.4:p.Ser12816Arg
NR_038271.1:n.596+13037T>G (TTN-AS1)
NR_038272.1:n.2768-87T>G (TTN-AS1)
XM_011511729.1:c.64162A>C (TTN) XP_011510031.1:p.Ser21388Arg
XM_011511730.1:c.38056A>C (TTN) XP_011510032.1:p.Ser12686Arg
XM_011511731.1:c.37915A>C (TTN) XP_011510033.1:p.Ser12639Arg
XM_017004819.1:c.63958A>C (TTN) XP_016860308.1:p.Ser21320Arg
XM_017004820.1:c.59356A>C (TTN) XP_016860309.1:p.Ser19786Arg
XM_017004821.1:c.59353A>C (TTN) XP_016860310.1:p.Ser19785Arg
XM_017004822.1:c.56395A>C (TTN) XP_016860311.1:p.Ser18799Arg
XM_017004823.1:c.38011A>C (TTN) XP_016860312.1:p.Ser12671Arg
XM_024453094.1:c.59506A>C (TTN) XP_024308862.1:p.Ser19836Arg
XM_024453095.1:c.59503A>C (TTN) XP_024308863.1:p.Ser19835Arg
XM_024453096.1:c.58936A>C (TTN) XP_024308864.1:p.Ser19646Arg
XM_024453097.1:c.56278A>C (TTN) XP_024308865.1:p.Ser18760Arg
XM_024453098.1:c.56197A>C (TTN) XP_024308866.1:p.Ser18733Arg
XM_024453099.1:c.37960A>C (TTN) XP_024308867.1:p.Ser12654Arg
XM_024453100.1:c.27814A>C (TTN) XP_024308868.1:p.Ser9272Arg