Canonical Allele Identifier: CA349429530
Community Standard Title: NM_001267550.2(TTN):c.66254C>A (p.Ser22085Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178582115G>T , CM000664.2:g.178582115G>T GRCh38
NC_000002.11:g.179446842G>T , CM000664.1:g.179446842G>T GRCh37
NC_000002.10:g.179155088G>T NCBI36
NG_011618.3:g.253688C>A , LRG_391:g.253688C>A
NG_051363.1:g.64289G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.66254C>A (TTN) MANE Select NP_001254479.2:p.Ser22085Ter
ENST00000589042.5:c.66254C>A (TTN) MANE Select ENSP00000467141.1:p.Ser22085Ter
NM_001256850.1:c.61331C>A (TTN) NP_001243779.1:p.Ser20444Ter
NM_003319.4:c.39059C>A (TTN) NP_003310.4:p.Ser13020Ter
NM_133378.4:c.58550C>A (TTN) NP_596869.4:p.Ser19517Ter
NM_133432.3:c.39434C>A (TTN) NP_597676.3:p.Ser13145Ter
NM_133437.4:c.39635C>A (TTN) NP_597681.4:p.Ser13212Ter
NR_038271.1:n.596+10666G>T (TTN-AS1)
NR_038272.1:n.2044-457G>T (TTN-AS1)
ENST00000342175.10:c.39635C>A (TTN) ENSP00000340554.6:p.Ser13212Ter
ENST00000342175.11:c.39635C>A (TTN) ENSP00000340554.6:p.Ser13212Ter
ENST00000342992.10:c.58550C>A (TTN) ENSP00000343764.6:p.Ser19517Ter
ENST00000342992.11:c.58550C>A (TTN) ENSP00000343764.6:p.Ser19517Ter
ENST00000359218.10:c.39434C>A (TTN) ENSP00000352154.5:p.Ser13145Ter
ENST00000359218.9:c.39434C>A (TTN) ENSP00000352154.5:p.Ser13145Ter
ENST00000460472.6:c.39059C>A (TTN) ENSP00000434586.1:p.Ser13020Ter
ENST00000591111.5:c.61331C>A (TTN) ENSP00000465570.1:p.Ser20444Ter
ENST00000615779.4:c.61331C>A (TTN) ENSP00000483597.1:p.Ser20444Ter
XM_011511729.1:c.65351C>A (TTN) XP_011510031.1:p.Ser21784Ter
XM_011511730.1:c.39245C>A (TTN) XP_011510032.1:p.Ser13082Ter
XM_011511731.1:c.39104C>A (TTN) XP_011510033.1:p.Ser13035Ter
XM_017004819.1:c.65147C>A (TTN) XP_016860308.1:p.Ser21716Ter
XM_017004820.1:c.60545C>A (TTN) XP_016860309.1:p.Ser20182Ter
XM_017004821.1:c.60542C>A (TTN) XP_016860310.1:p.Ser20181Ter
XM_017004822.1:c.57584C>A (TTN) XP_016860311.1:p.Ser19195Ter
XM_017004823.1:c.39200C>A (TTN) XP_016860312.1:p.Ser13067Ter
XM_024453094.1:c.60695C>A (TTN) XP_024308862.1:p.Ser20232Ter
XM_024453095.1:c.60692C>A (TTN) XP_024308863.1:p.Ser20231Ter
XM_024453096.1:c.60125C>A (TTN) XP_024308864.1:p.Ser20042Ter
XM_024453097.1:c.57467C>A (TTN) XP_024308865.1:p.Ser19156Ter
XM_024453098.1:c.57386C>A (TTN) XP_024308866.1:p.Ser19129Ter
XM_024453099.1:c.39149C>A (TTN) XP_024308867.1:p.Ser13050Ter
XM_024453100.1:c.29003C>A (TTN) XP_024308868.1:p.Ser9668Ter