Canonical Allele Identifier: CA349457279

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544416C>T , CM000664.2:g.178544416C>T GRCh38
NC_000002.11:g.179409143C>T , CM000664.1:g.179409143C>T GRCh37
NC_000002.10:g.179117389C>T NCBI36
NG_011618.3:g.291387G>A , LRG_391:g.291387G>A
NG_051363.1:g.26590C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.88109G>A (TTN) ENSP00000343764.6:p.Gly29370Asp
ENST00000342175.11:c.69194G>A (TTN) ENSP00000340554.6:p.Gly23065Asp
ENST00000359218.10:c.68993G>A (TTN) ENSP00000352154.5:p.Gly22998Asp
ENST00000342175.10:c.69194G>A (TTN) ENSP00000340554.6:p.Gly23065Asp
ENST00000342992.10:c.88109G>A (TTN) ENSP00000343764.6:p.Gly29370Asp
ENST00000359218.9:c.68993G>A (TTN) ENSP00000352154.5:p.Gly22998Asp
ENST00000460472.6:c.68618G>A (TTN) ENSP00000434586.1:p.Gly22873Asp
ENST00000589042.5:c.95813G>A (TTN) MANE Select ENSP00000467141.1:p.Gly31938Asp
ENST00000591111.5:c.90890G>A (TTN) ENSP00000465570.1:p.Gly30297Asp
ENST00000615779.4:c.90890G>A (TTN) ENSP00000483597.1:p.Gly30297Asp
NM_001256850.1:c.90890G>A (TTN) NP_001243779.1:p.Gly30297Asp
NM_001267550.2:c.95813G>A (TTN) MANE Select NP_001254479.2:p.Gly31938Asp
NM_003319.4:c.68618G>A (TTN) NP_003310.4:p.Gly22873Asp
NM_133378.4:c.88109G>A (TTN) NP_596869.4:p.Gly29370Asp
NM_133432.3:c.68993G>A (TTN) NP_597676.3:p.Gly22998Asp
NM_133437.4:c.69194G>A (TTN) NP_597681.4:p.Gly23065Asp
NR_038271.1:n.446+20780C>T (TTN-AS1)
NR_038272.1:n.2043+2055C>T (TTN-AS1)
XM_011511729.1:c.94910G>A (TTN) XP_011510031.1:p.Gly31637Asp
XM_011511730.1:c.68804G>A (TTN) XP_011510032.1:p.Gly22935Asp
XM_011511731.1:c.68663G>A (TTN) XP_011510033.1:p.Gly22888Asp
XM_017004819.1:c.94706G>A (TTN) XP_016860308.1:p.Gly31569Asp
XM_017004820.1:c.90104G>A (TTN) XP_016860309.1:p.Gly30035Asp
XM_017004821.1:c.90101G>A (TTN) XP_016860310.1:p.Gly30034Asp
XM_017004822.1:c.87143G>A (TTN) XP_016860311.1:p.Gly29048Asp
XM_017004823.1:c.68759G>A (TTN) XP_016860312.1:p.Gly22920Asp
XM_024453094.1:c.90254G>A (TTN) XP_024308862.1:p.Gly30085Asp
XM_024453095.1:c.90251G>A (TTN) XP_024308863.1:p.Gly30084Asp
XM_024453096.1:c.89684G>A (TTN) XP_024308864.1:p.Gly29895Asp
XM_024453097.1:c.87026G>A (TTN) XP_024308865.1:p.Gly29009Asp
XM_024453098.1:c.86945G>A (TTN) XP_024308866.1:p.Gly28982Asp
XM_024453099.1:c.68708G>A (TTN) XP_024308867.1:p.Gly22903Asp
XM_024453100.1:c.58562G>A (TTN) XP_024308868.1:p.Gly19521Asp