Canonical Allele Identifier: CA232506

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544036C>T , CM000664.2:g.178544036C>T GRCh38
NC_000002.11:g.179408763C>T , CM000664.1:g.179408763C>T GRCh37
NC_000002.10:g.179117009C>T NCBI36
NG_011618.3:g.291767G>A , LRG_391:g.291767G>A
NG_051363.1:g.26210C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88404G>A (TTN) ENSP00000343764.6:p.Val29468=
ENST00000342175.11:c.69489G>A (TTN) ENSP00000340554.6:p.Val23163=
ENST00000359218.10:c.69288G>A (TTN) ENSP00000352154.5:p.Val23096=
ENST00000342175.10:c.69489G>A (TTN) ENSP00000340554.6:p.Val23163=
ENST00000342992.10:c.88404G>A (TTN) ENSP00000343764.6:p.Val29468=
ENST00000359218.9:c.69288G>A (TTN) ENSP00000352154.5:p.Val23096=
ENST00000460472.6:c.68913G>A (TTN) ENSP00000434586.1:p.Val22971=
ENST00000589042.5:c.96108G>A (TTN) MANE Select ENSP00000467141.1:p.Val32036=
ENST00000591111.5:c.91185G>A (TTN) ENSP00000465570.1:p.Val30395=
ENST00000615779.4:c.91185G>A (TTN) ENSP00000483597.1:p.Val30395=
NM_001256850.1:c.91185G>A (TTN) NP_001243779.1:p.Val30395=
NM_001267550.2:c.96108G>A (TTN) MANE Select NP_001254479.2:p.Val32036=
NM_003319.4:c.68913G>A (TTN) NP_003310.4:p.Val22971=
NM_133378.4:c.88404G>A (TTN) NP_596869.4:p.Val29468=
NM_133432.3:c.69288G>A (TTN) NP_597676.3:p.Val23096=
NM_133437.4:c.69489G>A (TTN) NP_597681.4:p.Val23163=
NR_038271.1:n.446+20400C>T (TTN-AS1)
NR_038272.1:n.2043+1675C>T (TTN-AS1)
XM_011511729.1:c.95205G>A (TTN) XP_011510031.1:p.Val31735=
XM_011511730.1:c.69099G>A (TTN) XP_011510032.1:p.Val23033=
XM_011511731.1:c.68958G>A (TTN) XP_011510033.1:p.Val22986=
XM_017004819.1:c.95001G>A (TTN) XP_016860308.1:p.Val31667=
XM_017004820.1:c.90399G>A (TTN) XP_016860309.1:p.Val30133=
XM_017004821.1:c.90396G>A (TTN) XP_016860310.1:p.Val30132=
XM_017004822.1:c.87438G>A (TTN) XP_016860311.1:p.Val29146=
XM_017004823.1:c.69054G>A (TTN) XP_016860312.1:p.Val23018=
XM_024453094.1:c.90549G>A (TTN) XP_024308862.1:p.Val30183=
XM_024453095.1:c.90546G>A (TTN) XP_024308863.1:p.Val30182=
XM_024453096.1:c.89979G>A (TTN) XP_024308864.1:p.Val29993=
XM_024453097.1:c.87321G>A (TTN) XP_024308865.1:p.Val29107=
XM_024453098.1:c.87240G>A (TTN) XP_024308866.1:p.Val29080=
XM_024453099.1:c.69003G>A (TTN) XP_024308867.1:p.Val23001=
XM_024453100.1:c.58857G>A (TTN) XP_024308868.1:p.Val19619=