Canonical Allele Identifier: CA3085720510
Community Standard Title: NM_001267550.2(TTN):c.70754T= (p.Val23585=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178575378A= , CM000664.2:g.178575378A= GRCh38
NC_000002.11:g.179440105A= , CM000664.1:g.179440105A= GRCh37
NC_000002.10:g.179148351A= NCBI36
NG_011618.3:g.260425T= , LRG_391:g.260425T=
NG_051363.1:g.57552A=

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.70754T= (TTN) MANE Select NP_001254479.2:p.Val23585=
ENST00000589042.5:c.70754T= (TTN) MANE Select ENSP00000467141.1:p.Val23585=
NM_001256850.1:c.65831T= (TTN) NP_001243779.1:p.Val21944=
NM_003319.4:c.43559T= (TTN) NP_003310.4:p.Val14520=
NM_133378.4:c.63050T= (TTN) NP_596869.4:p.Val21017=
NM_133432.3:c.43934T= (TTN) NP_597676.3:p.Val14645=
NM_133437.4:c.44135T= (TTN) NP_597681.4:p.Val14712=
NR_038271.1:n.596+3929A= (TTN-AS1)
NR_038272.1:n.2044-7194A= (TTN-AS1)
ENST00000342175.10:c.44135T= (TTN) ENSP00000340554.6:p.Val14712=
ENST00000342175.11:c.44135T= (TTN) ENSP00000340554.6:p.Val14712=
ENST00000342992.10:c.63050T= (TTN) ENSP00000343764.6:p.Val21017=
ENST00000342992.11:c.63050T= (TTN) ENSP00000343764.6:p.Val21017=
ENST00000359218.10:c.43934T= (TTN) ENSP00000352154.5:p.Val14645=
ENST00000359218.9:c.43934T= (TTN) ENSP00000352154.5:p.Val14645=
ENST00000460472.6:c.43559T= (TTN) ENSP00000434586.1:p.Val14520=
ENST00000591111.5:c.65831T= (TTN) ENSP00000465570.1:p.Val21944=
ENST00000615779.4:c.65831T= (TTN) ENSP00000483597.1:p.Val21944=
XM_011511729.1:c.69851T= (TTN) XP_011510031.1:p.Val23284=
XM_011511730.1:c.43745T= (TTN) XP_011510032.1:p.Val14582=
XM_011511731.1:c.43604T= (TTN) XP_011510033.1:p.Val14535=
XM_017004819.1:c.69647T= (TTN) XP_016860308.1:p.Val23216=
XM_017004820.1:c.65045T= (TTN) XP_016860309.1:p.Val21682=
XM_017004821.1:c.65042T= (TTN) XP_016860310.1:p.Val21681=
XM_017004822.1:c.62084T= (TTN) XP_016860311.1:p.Val20695=
XM_017004823.1:c.43700T= (TTN) XP_016860312.1:p.Val14567=
XM_024453094.1:c.65195T= (TTN) XP_024308862.1:p.Val21732=
XM_024453095.1:c.65192T= (TTN) XP_024308863.1:p.Val21731=
XM_024453096.1:c.64625T= (TTN) XP_024308864.1:p.Val21542=
XM_024453097.1:c.61967T= (TTN) XP_024308865.1:p.Val20656=
XM_024453098.1:c.61886T= (TTN) XP_024308866.1:p.Val20629=
XM_024453099.1:c.43649T= (TTN) XP_024308867.1:p.Val14550=
XM_024453100.1:c.33503T= (TTN) XP_024308868.1:p.Val11168=