Canonical Allele Identifier: CA349422865
Community Standard Title: NM_001267550.2(TTN):c.67833C>G (p.Tyr22611Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178579197G>C , CM000664.2:g.178579197G>C GRCh38
NC_000002.11:g.179443924G>C , CM000664.1:g.179443924G>C GRCh37
NC_000002.10:g.179152170G>C NCBI36
NG_011618.3:g.256606C>G , LRG_391:g.256606C>G
NG_051363.1:g.61371G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.67833C>G (TTN) MANE Select NP_001254479.2:p.Tyr22611Ter
ENST00000589042.5:c.67833C>G (TTN) MANE Select ENSP00000467141.1:p.Tyr22611Ter
NM_001256850.1:c.62910C>G (TTN) NP_001243779.1:p.Tyr20970Ter
NM_003319.4:c.40638C>G (TTN) NP_003310.4:p.Tyr13546Ter
NM_133378.4:c.60129C>G (TTN) NP_596869.4:p.Tyr20043Ter
NM_133432.3:c.41013C>G (TTN) NP_597676.3:p.Tyr13671Ter
NM_133437.4:c.41214C>G (TTN) NP_597681.4:p.Tyr13738Ter
NR_038271.1:n.596+7748G>C (TTN-AS1)
NR_038272.1:n.2044-3375G>C (TTN-AS1)
ENST00000342175.10:c.41214C>G (TTN) ENSP00000340554.6:p.Tyr13738Ter
ENST00000342175.11:c.41214C>G (TTN) ENSP00000340554.6:p.Tyr13738Ter
ENST00000342992.10:c.60129C>G (TTN) ENSP00000343764.6:p.Tyr20043Ter
ENST00000342992.11:c.60129C>G (TTN) ENSP00000343764.6:p.Tyr20043Ter
ENST00000359218.10:c.41013C>G (TTN) ENSP00000352154.5:p.Tyr13671Ter
ENST00000359218.9:c.41013C>G (TTN) ENSP00000352154.5:p.Tyr13671Ter
ENST00000460472.6:c.40638C>G (TTN) ENSP00000434586.1:p.Tyr13546Ter
ENST00000591111.5:c.62910C>G (TTN) ENSP00000465570.1:p.Tyr20970Ter
ENST00000615779.4:c.62910C>G (TTN) ENSP00000483597.1:p.Tyr20970Ter
XM_011511729.1:c.66930C>G (TTN) XP_011510031.1:p.Tyr22310Ter
XM_011511730.1:c.40824C>G (TTN) XP_011510032.1:p.Tyr13608Ter
XM_011511731.1:c.40683C>G (TTN) XP_011510033.1:p.Tyr13561Ter
XM_017004819.1:c.66726C>G (TTN) XP_016860308.1:p.Tyr22242Ter
XM_017004820.1:c.62124C>G (TTN) XP_016860309.1:p.Tyr20708Ter
XM_017004821.1:c.62121C>G (TTN) XP_016860310.1:p.Tyr20707Ter
XM_017004822.1:c.59163C>G (TTN) XP_016860311.1:p.Tyr19721Ter
XM_017004823.1:c.40779C>G (TTN) XP_016860312.1:p.Tyr13593Ter
XM_024453094.1:c.62274C>G (TTN) XP_024308862.1:p.Tyr20758Ter
XM_024453095.1:c.62271C>G (TTN) XP_024308863.1:p.Tyr20757Ter
XM_024453096.1:c.61704C>G (TTN) XP_024308864.1:p.Tyr20568Ter
XM_024453097.1:c.59046C>G (TTN) XP_024308865.1:p.Tyr19682Ter
XM_024453098.1:c.58965C>G (TTN) XP_024308866.1:p.Tyr19655Ter
XM_024453099.1:c.40728C>G (TTN) XP_024308867.1:p.Tyr13576Ter
XM_024453100.1:c.30582C>G (TTN) XP_024308868.1:p.Tyr10194Ter