Canonical Allele Identifier: CA349411926

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532261T>C , CM000664.2:g.178532261T>C GRCh38
NC_000002.11:g.179396988T>C , CM000664.1:g.179396988T>C GRCh37
NC_000002.10:g.179105234T>C NCBI36
NG_011618.3:g.303542A>G , LRG_391:g.303542A>G
NG_051363.1:g.14435T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96650A>G (TTN) ENSP00000343764.6:p.Glu32217Gly
ENST00000342175.11:c.77735A>G (TTN) ENSP00000340554.6:p.Glu25912Gly
ENST00000359218.10:c.77534A>G (TTN) ENSP00000352154.5:p.Glu25845Gly
ENST00000342175.10:c.77735A>G (TTN) ENSP00000340554.6:p.Glu25912Gly
ENST00000342992.10:c.96650A>G (TTN) ENSP00000343764.6:p.Glu32217Gly
ENST00000359218.9:c.77534A>G (TTN) ENSP00000352154.5:p.Glu25845Gly
ENST00000460472.6:c.77159A>G (TTN) ENSP00000434586.1:p.Glu25720Gly
ENST00000589042.5:c.104354A>G (TTN) MANE Select ENSP00000467141.1:p.Glu34785Gly
ENST00000591111.5:c.99431A>G (TTN) ENSP00000465570.1:p.Glu33144Gly
ENST00000615779.4:c.99431A>G (TTN) ENSP00000483597.1:p.Glu33144Gly
NM_001256850.1:c.99431A>G (TTN) NP_001243779.1:p.Glu33144Gly
NM_001267550.2:c.104354A>G (TTN) MANE Select NP_001254479.2:p.Glu34785Gly
NM_003319.4:c.77159A>G (TTN) NP_003310.4:p.Glu25720Gly
NM_133378.4:c.96650A>G (TTN) NP_596869.4:p.Glu32217Gly
NM_133432.3:c.77534A>G (TTN) NP_597676.3:p.Glu25845Gly
NM_133437.4:c.77735A>G (TTN) NP_597681.4:p.Glu25912Gly
NR_038271.1:n.446+8625T>C (TTN-AS1)
NR_038272.1:n.220-3471T>C (TTN-AS1)
XM_011511729.1:c.103451A>G (TTN) XP_011510031.1:p.Glu34484Gly
XM_011511730.1:c.77345A>G (TTN) XP_011510032.1:p.Glu25782Gly
XM_011511731.1:c.77204A>G (TTN) XP_011510033.1:p.Glu25735Gly
XM_017004819.1:c.103247A>G (TTN) XP_016860308.1:p.Glu34416Gly
XM_017004820.1:c.98645A>G (TTN) XP_016860309.1:p.Glu32882Gly
XM_017004821.1:c.98642A>G (TTN) XP_016860310.1:p.Glu32881Gly
XM_017004822.1:c.95684A>G (TTN) XP_016860311.1:p.Glu31895Gly
XM_017004823.1:c.77300A>G (TTN) XP_016860312.1:p.Glu25767Gly
XM_024453094.1:c.98795A>G (TTN) XP_024308862.1:p.Glu32932Gly
XM_024453095.1:c.98792A>G (TTN) XP_024308863.1:p.Glu32931Gly
XM_024453096.1:c.98225A>G (TTN) XP_024308864.1:p.Glu32742Gly
XM_024453097.1:c.95567A>G (TTN) XP_024308865.1:p.Glu31856Gly
XM_024453098.1:c.95486A>G (TTN) XP_024308866.1:p.Glu31829Gly
XM_024453099.1:c.77249A>G (TTN) XP_024308867.1:p.Glu25750Gly
XM_024453100.1:c.67103A>G (TTN) XP_024308868.1:p.Glu22368Gly