Canonical Allele Identifier: CA60956200

Linked Data

dbSNP Id: rs894328744

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532139G>T , CM000664.2:g.178532139G>T GRCh38
NC_000002.11:g.179396866G>T , CM000664.1:g.179396866G>T GRCh37
NC_000002.10:g.179105112G>T NCBI36
NG_011618.3:g.303664C>A , LRG_391:g.303664C>A
NG_051363.1:g.14313G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96772C>A (TTN) ENSP00000343764.6:p.Gln32258Lys
ENST00000342175.11:c.77857C>A (TTN) ENSP00000340554.6:p.Gln25953Lys
ENST00000359218.10:c.77656C>A (TTN) ENSP00000352154.5:p.Gln25886Lys
ENST00000342175.10:c.77857C>A (TTN) ENSP00000340554.6:p.Gln25953Lys
ENST00000342992.10:c.96772C>A (TTN) ENSP00000343764.6:p.Gln32258Lys
ENST00000359218.9:c.77656C>A (TTN) ENSP00000352154.5:p.Gln25886Lys
ENST00000460472.6:c.77281C>A (TTN) ENSP00000434586.1:p.Gln25761Lys
ENST00000589042.5:c.104476C>A (TTN) MANE Select ENSP00000467141.1:p.Gln34826Lys
ENST00000591111.5:c.99553C>A (TTN) ENSP00000465570.1:p.Gln33185Lys
ENST00000615779.4:c.99553C>A (TTN) ENSP00000483597.1:p.Gln33185Lys
NM_001256850.1:c.99553C>A (TTN) NP_001243779.1:p.Gln33185Lys
NM_001267550.2:c.104476C>A (TTN) MANE Select NP_001254479.2:p.Gln34826Lys
NM_003319.4:c.77281C>A (TTN) NP_003310.4:p.Gln25761Lys
NM_133378.4:c.96772C>A (TTN) NP_596869.4:p.Gln32258Lys
NM_133432.3:c.77656C>A (TTN) NP_597676.3:p.Gln25886Lys
NM_133437.4:c.77857C>A (TTN) NP_597681.4:p.Gln25953Lys
NR_038271.1:n.446+8503G>T (TTN-AS1)
NR_038272.1:n.220-3593G>T (TTN-AS1)
XM_011511729.1:c.103573C>A (TTN) XP_011510031.1:p.Gln34525Lys
XM_011511730.1:c.77467C>A (TTN) XP_011510032.1:p.Gln25823Lys
XM_011511731.1:c.77326C>A (TTN) XP_011510033.1:p.Gln25776Lys
XM_017004819.1:c.103369C>A (TTN) XP_016860308.1:p.Gln34457Lys
XM_017004820.1:c.98767C>A (TTN) XP_016860309.1:p.Gln32923Lys
XM_017004821.1:c.98764C>A (TTN) XP_016860310.1:p.Gln32922Lys
XM_017004822.1:c.95806C>A (TTN) XP_016860311.1:p.Gln31936Lys
XM_017004823.1:c.77422C>A (TTN) XP_016860312.1:p.Gln25808Lys
XM_024453094.1:c.98917C>A (TTN) XP_024308862.1:p.Gln32973Lys
XM_024453095.1:c.98914C>A (TTN) XP_024308863.1:p.Gln32972Lys
XM_024453096.1:c.98347C>A (TTN) XP_024308864.1:p.Gln32783Lys
XM_024453097.1:c.95689C>A (TTN) XP_024308865.1:p.Gln31897Lys
XM_024453098.1:c.95608C>A (TTN) XP_024308866.1:p.Gln31870Lys
XM_024453099.1:c.77371C>A (TTN) XP_024308867.1:p.Gln25791Lys
XM_024453100.1:c.67225C>A (TTN) XP_024308868.1:p.Gln22409Lys