Canonical Allele Identifier: CA1994067
Community Standard Title: NM_001267550.2(TTN):c.52065C>T (p.His17355=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178609245G>A , CM000664.2:g.178609245G>A GRCh38
NC_000002.11:g.179473972G>A , CM000664.1:g.179473972G>A GRCh37
NC_000002.10:g.179182217G>A NCBI36
NG_011618.3:g.226558C>T , LRG_391:g.226558C>T
NG_051363.1:g.91419G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.52065C>T (TTN) MANE Select NP_001254479.2:p.His17355=
ENST00000589042.5:c.52065C>T (TTN) MANE Select ENSP00000467141.1:p.His17355=
NM_001256850.1:c.47142C>T (TTN) NP_001243779.1:p.His15714=
NM_003319.4:c.24870C>T (TTN) NP_003310.4:p.His8290=
NM_133378.4:c.44361C>T (TTN) NP_596869.4:p.His14787=
NM_133432.3:c.25245C>T (TTN) NP_597676.3:p.His8415=
NM_133437.4:c.25446C>T (TTN) NP_597681.4:p.His8482=
NR_038271.1:n.782+979G>A (TTN-AS1)
ENST00000342175.10:c.25446C>T (TTN) ENSP00000340554.6:p.His8482=
ENST00000342175.11:c.25446C>T (TTN) ENSP00000340554.6:p.His8482=
ENST00000342992.10:c.44361C>T (TTN) ENSP00000343764.6:p.His14787=
ENST00000342992.11:c.44361C>T (TTN) ENSP00000343764.6:p.His14787=
ENST00000359218.10:c.25245C>T (TTN) ENSP00000352154.5:p.His8415=
ENST00000359218.9:c.25245C>T (TTN) ENSP00000352154.5:p.His8415=
ENST00000460472.6:c.24870C>T (TTN) ENSP00000434586.1:p.His8290=
ENST00000591111.5:c.47142C>T (TTN) ENSP00000465570.1:p.His15714=
ENST00000615779.4:c.47142C>T (TTN) ENSP00000483597.1:p.His15714=
XM_011511729.1:c.51162C>T (TTN) XP_011510031.1:p.His17054=
XM_011511730.1:c.25056C>T (TTN) XP_011510032.1:p.His8352=
XM_011511731.1:c.24915C>T (TTN) XP_011510033.1:p.His8305=
XM_017004819.1:c.50958C>T (TTN) XP_016860308.1:p.His16986=
XM_017004820.1:c.46356C>T (TTN) XP_016860309.1:p.His15452=
XM_017004821.1:c.46353C>T (TTN) XP_016860310.1:p.His15451=
XM_017004822.1:c.43395C>T (TTN) XP_016860311.1:p.His14465=
XM_017004823.1:c.25011C>T (TTN) XP_016860312.1:p.His8337=
XM_024453094.1:c.46506C>T (TTN) XP_024308862.1:p.His15502=
XM_024453095.1:c.46503C>T (TTN) XP_024308863.1:p.His15501=
XM_024453096.1:c.45936C>T (TTN) XP_024308864.1:p.His15312=
XM_024453097.1:c.43278C>T (TTN) XP_024308865.1:p.His14426=
XM_024453098.1:c.43197C>T (TTN) XP_024308866.1:p.His14399=
XM_024453099.1:c.24960C>T (TTN) XP_024308867.1:p.His8320=
XM_024453100.1:c.14814C>T (TTN) XP_024308868.1:p.His4938=