Canonical Allele Identifier: CA349400168

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178527592T>C , CM000664.2:g.178527592T>C GRCh38
NC_000002.11:g.179392319T>C , CM000664.1:g.179392319T>C GRCh37
NC_000002.10:g.179100565T>C NCBI36
NG_011618.3:g.308211A>G , LRG_391:g.308211A>G
NG_051363.1:g.9766T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.99830A>G (TTN) ENSP00000343764.6:p.Glu33277Gly
ENST00000342175.11:c.80915A>G (TTN) ENSP00000340554.6:p.Glu26972Gly
ENST00000359218.10:c.80714A>G (TTN) ENSP00000352154.5:p.Glu26905Gly
ENST00000342175.10:c.80915A>G (TTN) ENSP00000340554.6:p.Glu26972Gly
ENST00000342992.10:c.99830A>G (TTN) ENSP00000343764.6:p.Glu33277Gly
ENST00000359218.9:c.80714A>G (TTN) ENSP00000352154.5:p.Glu26905Gly
ENST00000460472.6:c.80339A>G (TTN) ENSP00000434586.1:p.Glu26780Gly
ENST00000589042.5:c.107534A>G (TTN) MANE Select ENSP00000467141.1:p.Glu35845Gly
ENST00000591111.5:c.102611A>G (TTN) ENSP00000465570.1:p.Glu34204Gly
ENST00000615779.4:c.102611A>G (TTN) ENSP00000483597.1:p.Glu34204Gly
NM_001256850.1:c.102611A>G (TTN) NP_001243779.1:p.Glu34204Gly
NM_001267550.2:c.107534A>G (TTN) MANE Select NP_001254479.2:p.Glu35845Gly
NM_003319.4:c.80339A>G (TTN) NP_003310.4:p.Glu26780Gly
NM_133378.4:c.99830A>G (TTN) NP_596869.4:p.Glu33277Gly
NM_133432.3:c.80714A>G (TTN) NP_597676.3:p.Glu26905Gly
NM_133437.4:c.80915A>G (TTN) NP_597681.4:p.Glu26972Gly
NR_038271.1:n.446+3956T>C (TTN-AS1)
NR_038272.1:n.219+3956T>C (TTN-AS1)
XM_011511729.1:c.106631A>G (TTN) XP_011510031.1:p.Glu35544Gly
XM_011511730.1:c.80525A>G (TTN) XP_011510032.1:p.Glu26842Gly
XM_011511731.1:c.80384A>G (TTN) XP_011510033.1:p.Glu26795Gly
XM_017004819.1:c.106427A>G (TTN) XP_016860308.1:p.Glu35476Gly
XM_017004820.1:c.101825A>G (TTN) XP_016860309.1:p.Glu33942Gly
XM_017004821.1:c.101822A>G (TTN) XP_016860310.1:p.Glu33941Gly
XM_017004822.1:c.98864A>G (TTN) XP_016860311.1:p.Glu32955Gly
XM_017004823.1:c.80480A>G (TTN) XP_016860312.1:p.Glu26827Gly
XM_024453094.1:c.101975A>G (TTN) XP_024308862.1:p.Glu33992Gly
XM_024453095.1:c.101972A>G (TTN) XP_024308863.1:p.Glu33991Gly
XM_024453096.1:c.101405A>G (TTN) XP_024308864.1:p.Glu33802Gly
XM_024453097.1:c.98747A>G (TTN) XP_024308865.1:p.Glu32916Gly
XM_024453098.1:c.98666A>G (TTN) XP_024308866.1:p.Glu32889Gly
XM_024453099.1:c.80429A>G (TTN) XP_024308867.1:p.Glu26810Gly
XM_024453100.1:c.70283A>G (TTN) XP_024308868.1:p.Glu23428Gly