Canonical Allele Identifier: CA349411458

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532081G>C , CM000664.2:g.178532081G>C GRCh38
NC_000002.11:g.179396808G>C , CM000664.1:g.179396808G>C GRCh37
NC_000002.10:g.179105054G>C NCBI36
NG_011618.3:g.303722C>G , LRG_391:g.303722C>G
NG_051363.1:g.14255G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96830C>G (TTN) ENSP00000343764.6:p.Pro32277Arg
ENST00000342175.11:c.77915C>G (TTN) ENSP00000340554.6:p.Pro25972Arg
ENST00000359218.10:c.77714C>G (TTN) ENSP00000352154.5:p.Pro25905Arg
ENST00000342175.10:c.77915C>G (TTN) ENSP00000340554.6:p.Pro25972Arg
ENST00000342992.10:c.96830C>G (TTN) ENSP00000343764.6:p.Pro32277Arg
ENST00000359218.9:c.77714C>G (TTN) ENSP00000352154.5:p.Pro25905Arg
ENST00000460472.6:c.77339C>G (TTN) ENSP00000434586.1:p.Pro25780Arg
ENST00000589042.5:c.104534C>G (TTN) MANE Select ENSP00000467141.1:p.Pro34845Arg
ENST00000591111.5:c.99611C>G (TTN) ENSP00000465570.1:p.Pro33204Arg
ENST00000615779.4:c.99611C>G (TTN) ENSP00000483597.1:p.Pro33204Arg
NM_001256850.1:c.99611C>G (TTN) NP_001243779.1:p.Pro33204Arg
NM_001267550.2:c.104534C>G (TTN) MANE Select NP_001254479.2:p.Pro34845Arg
NM_003319.4:c.77339C>G (TTN) NP_003310.4:p.Pro25780Arg
NM_133378.4:c.96830C>G (TTN) NP_596869.4:p.Pro32277Arg
NM_133432.3:c.77714C>G (TTN) NP_597676.3:p.Pro25905Arg
NM_133437.4:c.77915C>G (TTN) NP_597681.4:p.Pro25972Arg
NR_038271.1:n.446+8445G>C (TTN-AS1)
NR_038272.1:n.220-3651G>C (TTN-AS1)
XM_011511729.1:c.103631C>G (TTN) XP_011510031.1:p.Pro34544Arg
XM_011511730.1:c.77525C>G (TTN) XP_011510032.1:p.Pro25842Arg
XM_011511731.1:c.77384C>G (TTN) XP_011510033.1:p.Pro25795Arg
XM_017004819.1:c.103427C>G (TTN) XP_016860308.1:p.Pro34476Arg
XM_017004820.1:c.98825C>G (TTN) XP_016860309.1:p.Pro32942Arg
XM_017004821.1:c.98822C>G (TTN) XP_016860310.1:p.Pro32941Arg
XM_017004822.1:c.95864C>G (TTN) XP_016860311.1:p.Pro31955Arg
XM_017004823.1:c.77480C>G (TTN) XP_016860312.1:p.Pro25827Arg
XM_024453094.1:c.98975C>G (TTN) XP_024308862.1:p.Pro32992Arg
XM_024453095.1:c.98972C>G (TTN) XP_024308863.1:p.Pro32991Arg
XM_024453096.1:c.98405C>G (TTN) XP_024308864.1:p.Pro32802Arg
XM_024453097.1:c.95747C>G (TTN) XP_024308865.1:p.Pro31916Arg
XM_024453098.1:c.95666C>G (TTN) XP_024308866.1:p.Pro31889Arg
XM_024453099.1:c.77429C>G (TTN) XP_024308867.1:p.Pro25810Arg
XM_024453100.1:c.67283C>G (TTN) XP_024308868.1:p.Pro22428Arg