Canonical Allele Identifier: CA349407828

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530848G>A , CM000664.2:g.178530848G>A GRCh38
NC_000002.11:g.179395575G>A , CM000664.1:g.179395575G>A GRCh37
NC_000002.10:g.179103821G>A NCBI36
NG_011618.3:g.304955C>T , LRG_391:g.304955C>T
NG_051363.1:g.13022G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98063C>T (TTN) ENSP00000343764.6:p.Pro32688Leu
ENST00000342175.11:c.79148C>T (TTN) ENSP00000340554.6:p.Pro26383Leu
ENST00000359218.10:c.78947C>T (TTN) ENSP00000352154.5:p.Pro26316Leu
ENST00000342175.10:c.79148C>T (TTN) ENSP00000340554.6:p.Pro26383Leu
ENST00000342992.10:c.98063C>T (TTN) ENSP00000343764.6:p.Pro32688Leu
ENST00000359218.9:c.78947C>T (TTN) ENSP00000352154.5:p.Pro26316Leu
ENST00000460472.6:c.78572C>T (TTN) ENSP00000434586.1:p.Pro26191Leu
ENST00000589042.5:c.105767C>T (TTN) MANE Select ENSP00000467141.1:p.Pro35256Leu
ENST00000591111.5:c.100844C>T (TTN) ENSP00000465570.1:p.Pro33615Leu
ENST00000615779.4:c.100844C>T (TTN) ENSP00000483597.1:p.Pro33615Leu
NM_001256850.1:c.100844C>T (TTN) NP_001243779.1:p.Pro33615Leu
NM_001267550.2:c.105767C>T (TTN) MANE Select NP_001254479.2:p.Pro35256Leu
NM_003319.4:c.78572C>T (TTN) NP_003310.4:p.Pro26191Leu
NM_133378.4:c.98063C>T (TTN) NP_596869.4:p.Pro32688Leu
NM_133432.3:c.78947C>T (TTN) NP_597676.3:p.Pro26316Leu
NM_133437.4:c.79148C>T (TTN) NP_597681.4:p.Pro26383Leu
NR_038271.1:n.446+7212G>A (TTN-AS1)
NR_038272.1:n.220-4884G>A (TTN-AS1)
XM_011511729.1:c.104864C>T (TTN) XP_011510031.1:p.Pro34955Leu
XM_011511730.1:c.78758C>T (TTN) XP_011510032.1:p.Pro26253Leu
XM_011511731.1:c.78617C>T (TTN) XP_011510033.1:p.Pro26206Leu
XM_017004819.1:c.104660C>T (TTN) XP_016860308.1:p.Pro34887Leu
XM_017004820.1:c.100058C>T (TTN) XP_016860309.1:p.Pro33353Leu
XM_017004821.1:c.100055C>T (TTN) XP_016860310.1:p.Pro33352Leu
XM_017004822.1:c.97097C>T (TTN) XP_016860311.1:p.Pro32366Leu
XM_017004823.1:c.78713C>T (TTN) XP_016860312.1:p.Pro26238Leu
XM_024453094.1:c.100208C>T (TTN) XP_024308862.1:p.Pro33403Leu
XM_024453095.1:c.100205C>T (TTN) XP_024308863.1:p.Pro33402Leu
XM_024453096.1:c.99638C>T (TTN) XP_024308864.1:p.Pro33213Leu
XM_024453097.1:c.96980C>T (TTN) XP_024308865.1:p.Pro32327Leu
XM_024453098.1:c.96899C>T (TTN) XP_024308866.1:p.Pro32300Leu
XM_024453099.1:c.78662C>T (TTN) XP_024308867.1:p.Pro26221Leu
XM_024453100.1:c.68516C>T (TTN) XP_024308868.1:p.Pro22839Leu