Canonical Allele Identifier: CA349457313

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544417C>A , CM000664.2:g.178544417C>A GRCh38
NC_000002.11:g.179409144C>A , CM000664.1:g.179409144C>A GRCh37
NC_000002.10:g.179117390C>A NCBI36
NG_011618.3:g.291386G>T , LRG_391:g.291386G>T
NG_051363.1:g.26591C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.88108G>T (TTN) ENSP00000343764.6:p.Gly29370Cys
ENST00000342175.11:c.69193G>T (TTN) ENSP00000340554.6:p.Gly23065Cys
ENST00000359218.10:c.68992G>T (TTN) ENSP00000352154.5:p.Gly22998Cys
ENST00000342175.10:c.69193G>T (TTN) ENSP00000340554.6:p.Gly23065Cys
ENST00000342992.10:c.88108G>T (TTN) ENSP00000343764.6:p.Gly29370Cys
ENST00000359218.9:c.68992G>T (TTN) ENSP00000352154.5:p.Gly22998Cys
ENST00000460472.6:c.68617G>T (TTN) ENSP00000434586.1:p.Gly22873Cys
ENST00000589042.5:c.95812G>T (TTN) MANE Select ENSP00000467141.1:p.Gly31938Cys
ENST00000591111.5:c.90889G>T (TTN) ENSP00000465570.1:p.Gly30297Cys
ENST00000615779.4:c.90889G>T (TTN) ENSP00000483597.1:p.Gly30297Cys
NM_001256850.1:c.90889G>T (TTN) NP_001243779.1:p.Gly30297Cys
NM_001267550.2:c.95812G>T (TTN) MANE Select NP_001254479.2:p.Gly31938Cys
NM_003319.4:c.68617G>T (TTN) NP_003310.4:p.Gly22873Cys
NM_133378.4:c.88108G>T (TTN) NP_596869.4:p.Gly29370Cys
NM_133432.3:c.68992G>T (TTN) NP_597676.3:p.Gly22998Cys
NM_133437.4:c.69193G>T (TTN) NP_597681.4:p.Gly23065Cys
NR_038271.1:n.446+20781C>A (TTN-AS1)
NR_038272.1:n.2043+2056C>A (TTN-AS1)
XM_011511729.1:c.94909G>T (TTN) XP_011510031.1:p.Gly31637Cys
XM_011511730.1:c.68803G>T (TTN) XP_011510032.1:p.Gly22935Cys
XM_011511731.1:c.68662G>T (TTN) XP_011510033.1:p.Gly22888Cys
XM_017004819.1:c.94705G>T (TTN) XP_016860308.1:p.Gly31569Cys
XM_017004820.1:c.90103G>T (TTN) XP_016860309.1:p.Gly30035Cys
XM_017004821.1:c.90100G>T (TTN) XP_016860310.1:p.Gly30034Cys
XM_017004822.1:c.87142G>T (TTN) XP_016860311.1:p.Gly29048Cys
XM_017004823.1:c.68758G>T (TTN) XP_016860312.1:p.Gly22920Cys
XM_024453094.1:c.90253G>T (TTN) XP_024308862.1:p.Gly30085Cys
XM_024453095.1:c.90250G>T (TTN) XP_024308863.1:p.Gly30084Cys
XM_024453096.1:c.89683G>T (TTN) XP_024308864.1:p.Gly29895Cys
XM_024453097.1:c.87025G>T (TTN) XP_024308865.1:p.Gly29009Cys
XM_024453098.1:c.86944G>T (TTN) XP_024308866.1:p.Gly28982Cys
XM_024453099.1:c.68707G>T (TTN) XP_024308867.1:p.Gly22903Cys
XM_024453100.1:c.58561G>T (TTN) XP_024308868.1:p.Gly19521Cys