Canonical Allele Identifier: CA1984870

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178527167C>G , CM000664.2:g.178527167C>G GRCh38
NC_000002.11:g.179391894C>G , CM000664.1:g.179391894C>G GRCh37
NC_000002.10:g.179100140C>G NCBI36
NG_011618.3:g.308636G>C , LRG_391:g.308636G>C
NG_051363.1:g.9341C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.100117G>C (TTN) ENSP00000343764.6:p.Glu33373Gln
ENST00000342175.11:c.81202G>C (TTN) ENSP00000340554.6:p.Glu27068Gln
ENST00000359218.10:c.81001G>C (TTN) ENSP00000352154.5:p.Glu27001Gln
ENST00000342175.10:c.81202G>C (TTN) ENSP00000340554.6:p.Glu27068Gln
ENST00000342992.10:c.100117G>C (TTN) ENSP00000343764.6:p.Glu33373Gln
ENST00000359218.9:c.81001G>C (TTN) ENSP00000352154.5:p.Glu27001Gln
ENST00000460472.6:c.80626G>C (TTN) ENSP00000434586.1:p.Glu26876Gln
ENST00000589042.5:c.107821G>C (TTN) MANE Select ENSP00000467141.1:p.Glu35941Gln
ENST00000591111.5:c.102898G>C (TTN) ENSP00000465570.1:p.Glu34300Gln
ENST00000615779.4:c.102898G>C (TTN) ENSP00000483597.1:p.Glu34300Gln
NM_001256850.1:c.102898G>C (TTN) NP_001243779.1:p.Glu34300Gln
NM_001267550.2:c.107821G>C (TTN) MANE Select NP_001254479.2:p.Glu35941Gln
NM_003319.4:c.80626G>C (TTN) NP_003310.4:p.Glu26876Gln
NM_133378.4:c.100117G>C (TTN) NP_596869.4:p.Glu33373Gln
NM_133432.3:c.81001G>C (TTN) NP_597676.3:p.Glu27001Gln
NM_133437.4:c.81202G>C (TTN) NP_597681.4:p.Glu27068Gln
NR_038271.1:n.446+3531C>G (TTN-AS1)
NR_038272.1:n.219+3531C>G (TTN-AS1)
XM_011511729.1:c.106918G>C (TTN) XP_011510031.1:p.Glu35640Gln
XM_011511730.1:c.80812G>C (TTN) XP_011510032.1:p.Glu26938Gln
XM_011511731.1:c.80671G>C (TTN) XP_011510033.1:p.Glu26891Gln
XM_017004819.1:c.106714G>C (TTN) XP_016860308.1:p.Glu35572Gln
XM_017004820.1:c.102112G>C (TTN) XP_016860309.1:p.Glu34038Gln
XM_017004821.1:c.102109G>C (TTN) XP_016860310.1:p.Glu34037Gln
XM_017004822.1:c.99151G>C (TTN) XP_016860311.1:p.Glu33051Gln
XM_017004823.1:c.80767G>C (TTN) XP_016860312.1:p.Glu26923Gln
XM_024453094.1:c.102262G>C (TTN) XP_024308862.1:p.Glu34088Gln
XM_024453095.1:c.102259G>C (TTN) XP_024308863.1:p.Glu34087Gln
XM_024453096.1:c.101692G>C (TTN) XP_024308864.1:p.Glu33898Gln
XM_024453097.1:c.99034G>C (TTN) XP_024308865.1:p.Glu33012Gln
XM_024453098.1:c.98953G>C (TTN) XP_024308866.1:p.Glu32985Gln
XM_024453099.1:c.80716G>C (TTN) XP_024308867.1:p.Glu26906Gln
XM_024453100.1:c.70570G>C (TTN) XP_024308868.1:p.Glu23524Gln