Canonical Allele Identifier: CA1310523393

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178546776A= , CM000664.2:g.178546776A= GRCh38
NC_000002.11:g.179411503A= , CM000664.1:g.179411503A= GRCh37
NC_000002.10:g.179119749A= NCBI36
NG_011618.3:g.289027T= , LRG_391:g.289027T=
NG_051363.1:g.28950A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.86948T= (TTN) ENSP00000343764.6:p.Val28983=
ENST00000342175.11:c.68033T= (TTN) ENSP00000340554.6:p.Val22678=
ENST00000359218.10:c.67832T= (TTN) ENSP00000352154.5:p.Val22611=
ENST00000342175.10:c.68033T= (TTN) ENSP00000340554.6:p.Val22678=
ENST00000342992.10:c.86948T= (TTN) ENSP00000343764.6:p.Val28983=
ENST00000359218.9:c.67832T= (TTN) ENSP00000352154.5:p.Val22611=
ENST00000460472.6:c.67457T= (TTN) ENSP00000434586.1:p.Val22486=
ENST00000589042.5:c.94652T= (TTN) MANE Select ENSP00000467141.1:p.Val31551=
ENST00000591111.5:c.89729T= (TTN) ENSP00000465570.1:p.Val29910=
ENST00000615779.4:c.89729T= (TTN) ENSP00000483597.1:p.Val29910=
NM_001256850.1:c.89729T= (TTN) NP_001243779.1:p.Val29910=
NM_001267550.2:c.94652T= (TTN) MANE Select NP_001254479.2:p.Val31551=
NM_003319.4:c.67457T= (TTN) NP_003310.4:p.Val22486=
NM_133378.4:c.86948T= (TTN) NP_596869.4:p.Val28983=
NM_133432.3:c.67832T= (TTN) NP_597676.3:p.Val22611=
NM_133437.4:c.68033T= (TTN) NP_597681.4:p.Val22678=
NR_038271.1:n.446+23140A= (TTN-AS1)
NR_038272.1:n.2043+4415A= (TTN-AS1)
XM_011511729.1:c.93749T= (TTN) XP_011510031.1:p.Val31250=
XM_011511730.1:c.67643T= (TTN) XP_011510032.1:p.Val22548=
XM_011511731.1:c.67502T= (TTN) XP_011510033.1:p.Val22501=
XM_017004819.1:c.93545T= (TTN) XP_016860308.1:p.Val31182=
XM_017004820.1:c.88943T= (TTN) XP_016860309.1:p.Val29648=
XM_017004821.1:c.88940T= (TTN) XP_016860310.1:p.Val29647=
XM_017004822.1:c.85982T= (TTN) XP_016860311.1:p.Val28661=
XM_017004823.1:c.67598T= (TTN) XP_016860312.1:p.Val22533=
XM_024453094.1:c.89093T= (TTN) XP_024308862.1:p.Val29698=
XM_024453095.1:c.89090T= (TTN) XP_024308863.1:p.Val29697=
XM_024453096.1:c.88523T= (TTN) XP_024308864.1:p.Val29508=
XM_024453097.1:c.85865T= (TTN) XP_024308865.1:p.Val28622=
XM_024453098.1:c.85784T= (TTN) XP_024308866.1:p.Val28595=
XM_024453099.1:c.67547T= (TTN) XP_024308867.1:p.Val22516=
XM_024453100.1:c.57401T= (TTN) XP_024308868.1:p.Val19134=