Canonical Allele Identifier: CA61004825
Community Standard Title: NM_001267550.2(TTN):c.68904C>T (p.Ala22968=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178577431G>A , CM000664.2:g.178577431G>A GRCh38
NC_000002.11:g.179442158G>A , CM000664.1:g.179442158G>A GRCh37
NC_000002.10:g.179150404G>A NCBI36
NG_011618.3:g.258372C>T , LRG_391:g.258372C>T
NG_051363.1:g.59605G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.68904C>T (TTN) MANE Select NP_001254479.2:p.Ala22968=
ENST00000589042.5:c.68904C>T (TTN) MANE Select ENSP00000467141.1:p.Ala22968=
NM_001256850.1:c.63981C>T (TTN) NP_001243779.1:p.Ala21327=
NM_003319.4:c.41709C>T (TTN) NP_003310.4:p.Ala13903=
NM_133378.4:c.61200C>T (TTN) NP_596869.4:p.Ala20400=
NM_133432.3:c.42084C>T (TTN) NP_597676.3:p.Ala14028=
NM_133437.4:c.42285C>T (TTN) NP_597681.4:p.Ala14095=
NR_038271.1:n.596+5982G>A (TTN-AS1)
NR_038272.1:n.2044-5141G>A (TTN-AS1)
ENST00000342175.10:c.42285C>T (TTN) ENSP00000340554.6:p.Ala14095=
ENST00000342175.11:c.42285C>T (TTN) ENSP00000340554.6:p.Ala14095=
ENST00000342992.10:c.61200C>T (TTN) ENSP00000343764.6:p.Ala20400=
ENST00000342992.11:c.61200C>T (TTN) ENSP00000343764.6:p.Ala20400=
ENST00000359218.10:c.42084C>T (TTN) ENSP00000352154.5:p.Ala14028=
ENST00000359218.9:c.42084C>T (TTN) ENSP00000352154.5:p.Ala14028=
ENST00000460472.6:c.41709C>T (TTN) ENSP00000434586.1:p.Ala13903=
ENST00000591111.5:c.63981C>T (TTN) ENSP00000465570.1:p.Ala21327=
ENST00000615779.4:c.63981C>T (TTN) ENSP00000483597.1:p.Ala21327=
XM_011511729.1:c.68001C>T (TTN) XP_011510031.1:p.Ala22667=
XM_011511730.1:c.41895C>T (TTN) XP_011510032.1:p.Ala13965=
XM_011511731.1:c.41754C>T (TTN) XP_011510033.1:p.Ala13918=
XM_017004819.1:c.67797C>T (TTN) XP_016860308.1:p.Ala22599=
XM_017004820.1:c.63195C>T (TTN) XP_016860309.1:p.Ala21065=
XM_017004821.1:c.63192C>T (TTN) XP_016860310.1:p.Ala21064=
XM_017004822.1:c.60234C>T (TTN) XP_016860311.1:p.Ala20078=
XM_017004823.1:c.41850C>T (TTN) XP_016860312.1:p.Ala13950=
XM_024453094.1:c.63345C>T (TTN) XP_024308862.1:p.Ala21115=
XM_024453095.1:c.63342C>T (TTN) XP_024308863.1:p.Ala21114=
XM_024453096.1:c.62775C>T (TTN) XP_024308864.1:p.Ala20925=
XM_024453097.1:c.60117C>T (TTN) XP_024308865.1:p.Ala20039=
XM_024453098.1:c.60036C>T (TTN) XP_024308866.1:p.Ala20012=
XM_024453099.1:c.41799C>T (TTN) XP_024308867.1:p.Ala13933=
XM_024453100.1:c.31653C>T (TTN) XP_024308868.1:p.Ala10551=