Canonical Allele Identifier: CA1310523398

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178546779T= , CM000664.2:g.178546779T= GRCh38
NC_000002.11:g.179411506T= , CM000664.1:g.179411506T= GRCh37
NC_000002.10:g.179119752T= NCBI36
NG_011618.3:g.289024A= , LRG_391:g.289024A=
NG_051363.1:g.28953T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.86945A= (TTN) ENSP00000343764.6:p.Glu28982=
ENST00000342175.11:c.68030A= (TTN) ENSP00000340554.6:p.Glu22677=
ENST00000359218.10:c.67829A= (TTN) ENSP00000352154.5:p.Glu22610=
ENST00000342175.10:c.68030A= (TTN) ENSP00000340554.6:p.Glu22677=
ENST00000342992.10:c.86945A= (TTN) ENSP00000343764.6:p.Glu28982=
ENST00000359218.9:c.67829A= (TTN) ENSP00000352154.5:p.Glu22610=
ENST00000460472.6:c.67454A= (TTN) ENSP00000434586.1:p.Glu22485=
ENST00000589042.5:c.94649A= (TTN) MANE Select ENSP00000467141.1:p.Glu31550=
ENST00000591111.5:c.89726A= (TTN) ENSP00000465570.1:p.Glu29909=
ENST00000615779.4:c.89726A= (TTN) ENSP00000483597.1:p.Glu29909=
NM_001256850.1:c.89726A= (TTN) NP_001243779.1:p.Glu29909=
NM_001267550.2:c.94649A= (TTN) MANE Select NP_001254479.2:p.Glu31550=
NM_003319.4:c.67454A= (TTN) NP_003310.4:p.Glu22485=
NM_133378.4:c.86945A= (TTN) NP_596869.4:p.Glu28982=
NM_133432.3:c.67829A= (TTN) NP_597676.3:p.Glu22610=
NM_133437.4:c.68030A= (TTN) NP_597681.4:p.Glu22677=
NR_038271.1:n.446+23143T= (TTN-AS1)
NR_038272.1:n.2043+4418T= (TTN-AS1)
XM_011511729.1:c.93746A= (TTN) XP_011510031.1:p.Glu31249=
XM_011511730.1:c.67640A= (TTN) XP_011510032.1:p.Glu22547=
XM_011511731.1:c.67499A= (TTN) XP_011510033.1:p.Glu22500=
XM_017004819.1:c.93542A= (TTN) XP_016860308.1:p.Glu31181=
XM_017004820.1:c.88940A= (TTN) XP_016860309.1:p.Glu29647=
XM_017004821.1:c.88937A= (TTN) XP_016860310.1:p.Glu29646=
XM_017004822.1:c.85979A= (TTN) XP_016860311.1:p.Glu28660=
XM_017004823.1:c.67595A= (TTN) XP_016860312.1:p.Glu22532=
XM_024453094.1:c.89090A= (TTN) XP_024308862.1:p.Glu29697=
XM_024453095.1:c.89087A= (TTN) XP_024308863.1:p.Glu29696=
XM_024453096.1:c.88520A= (TTN) XP_024308864.1:p.Glu29507=
XM_024453097.1:c.85862A= (TTN) XP_024308865.1:p.Glu28621=
XM_024453098.1:c.85781A= (TTN) XP_024308866.1:p.Glu28594=
XM_024453099.1:c.67544A= (TTN) XP_024308867.1:p.Glu22515=
XM_024453100.1:c.57398A= (TTN) XP_024308868.1:p.Glu19133=