Canonical Allele Identifier: CA349573151
Community Standard Title: NM_001267550.2(TTN):c.82512C>A (p.Tyr27504Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178563620G>T , CM000664.2:g.178563620G>T GRCh38
NC_000002.11:g.179428347G>T , CM000664.1:g.179428347G>T GRCh37
NC_000002.10:g.179136593G>T NCBI36
NG_011618.3:g.272183C>A , LRG_391:g.272183C>A
NG_051363.1:g.45794G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.82512C>A (TTN) MANE Select NP_001254479.2:p.Tyr27504Ter
ENST00000589042.5:c.82512C>A (TTN) MANE Select ENSP00000467141.1:p.Tyr27504Ter
NM_001256850.1:c.77589C>A (TTN) NP_001243779.1:p.Tyr25863Ter
NM_003319.4:c.55317C>A (TTN) NP_003310.4:p.Tyr18439Ter
NM_133378.4:c.74808C>A (TTN) NP_596869.4:p.Tyr24936Ter
NM_133432.3:c.55692C>A (TTN) NP_597676.3:p.Tyr18564Ter
NM_133437.4:c.55893C>A (TTN) NP_597681.4:p.Tyr18631Ter
NR_038271.1:n.447-7680G>T (TTN-AS1)
NR_038272.1:n.2044-18952G>T (TTN-AS1)
ENST00000342175.10:c.55893C>A (TTN) ENSP00000340554.6:p.Tyr18631Ter
ENST00000342175.11:c.55893C>A (TTN) ENSP00000340554.6:p.Tyr18631Ter
ENST00000342992.10:c.74808C>A (TTN) ENSP00000343764.6:p.Tyr24936Ter
ENST00000342992.11:c.74808C>A (TTN) ENSP00000343764.6:p.Tyr24936Ter
ENST00000359218.10:c.55692C>A (TTN) ENSP00000352154.5:p.Tyr18564Ter
ENST00000359218.9:c.55692C>A (TTN) ENSP00000352154.5:p.Tyr18564Ter
ENST00000460472.6:c.55317C>A (TTN) ENSP00000434586.1:p.Tyr18439Ter
ENST00000591111.5:c.77589C>A (TTN) ENSP00000465570.1:p.Tyr25863Ter
ENST00000615779.4:c.77589C>A (TTN) ENSP00000483597.1:p.Tyr25863Ter
XM_011511729.1:c.81609C>A (TTN) XP_011510031.1:p.Tyr27203Ter
XM_011511730.1:c.55503C>A (TTN) XP_011510032.1:p.Tyr18501Ter
XM_011511731.1:c.55362C>A (TTN) XP_011510033.1:p.Tyr18454Ter
XM_017004819.1:c.81405C>A (TTN) XP_016860308.1:p.Tyr27135Ter
XM_017004820.1:c.76803C>A (TTN) XP_016860309.1:p.Tyr25601Ter
XM_017004821.1:c.76800C>A (TTN) XP_016860310.1:p.Tyr25600Ter
XM_017004822.1:c.73842C>A (TTN) XP_016860311.1:p.Tyr24614Ter
XM_017004823.1:c.55458C>A (TTN) XP_016860312.1:p.Tyr18486Ter
XM_024453094.1:c.76953C>A (TTN) XP_024308862.1:p.Tyr25651Ter
XM_024453095.1:c.76950C>A (TTN) XP_024308863.1:p.Tyr25650Ter
XM_024453096.1:c.76383C>A (TTN) XP_024308864.1:p.Tyr25461Ter
XM_024453097.1:c.73725C>A (TTN) XP_024308865.1:p.Tyr24575Ter
XM_024453098.1:c.73644C>A (TTN) XP_024308866.1:p.Tyr24548Ter
XM_024453099.1:c.55407C>A (TTN) XP_024308867.1:p.Tyr18469Ter
XM_024453100.1:c.45261C>A (TTN) XP_024308868.1:p.Tyr15087Ter