Canonical Allele Identifier: CA349398164

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178527027A>C , CM000664.2:g.178527027A>C GRCh38
NC_000002.11:g.179391754A>C , CM000664.1:g.179391754A>C GRCh37
NC_000002.10:g.179100000A>C NCBI36
NG_011618.3:g.308776T>G , LRG_391:g.308776T>G
NG_051363.1:g.9201A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.100257T>G (TTN) ENSP00000343764.6:p.His33419Gln
ENST00000342175.11:c.81342T>G (TTN) ENSP00000340554.6:p.His27114Gln
ENST00000359218.10:c.81141T>G (TTN) ENSP00000352154.5:p.His27047Gln
ENST00000342175.10:c.81342T>G (TTN) ENSP00000340554.6:p.His27114Gln
ENST00000342992.10:c.100257T>G (TTN) ENSP00000343764.6:p.His33419Gln
ENST00000359218.9:c.81141T>G (TTN) ENSP00000352154.5:p.His27047Gln
ENST00000460472.6:c.80766T>G (TTN) ENSP00000434586.1:p.His26922Gln
ENST00000589042.5:c.107961T>G (TTN) MANE Select ENSP00000467141.1:p.His35987Gln
ENST00000591111.5:c.103038T>G (TTN) ENSP00000465570.1:p.His34346Gln
ENST00000615779.4:c.103038T>G (TTN) ENSP00000483597.1:p.His34346Gln
NM_001256850.1:c.103038T>G (TTN) NP_001243779.1:p.His34346Gln
NM_001267550.2:c.107961T>G (TTN) MANE Select NP_001254479.2:p.His35987Gln
NM_003319.4:c.80766T>G (TTN) NP_003310.4:p.His26922Gln
NM_133378.4:c.100257T>G (TTN) NP_596869.4:p.His33419Gln
NM_133432.3:c.81141T>G (TTN) NP_597676.3:p.His27047Gln
NM_133437.4:c.81342T>G (TTN) NP_597681.4:p.His27114Gln
NR_038271.1:n.446+3391A>C (TTN-AS1)
NR_038272.1:n.219+3391A>C (TTN-AS1)
XM_011511729.1:c.107058T>G (TTN) XP_011510031.1:p.His35686Gln
XM_011511730.1:c.80952T>G (TTN) XP_011510032.1:p.His26984Gln
XM_011511731.1:c.80811T>G (TTN) XP_011510033.1:p.His26937Gln
XM_017004819.1:c.106854T>G (TTN) XP_016860308.1:p.His35618Gln
XM_017004820.1:c.102252T>G (TTN) XP_016860309.1:p.His34084Gln
XM_017004821.1:c.102249T>G (TTN) XP_016860310.1:p.His34083Gln
XM_017004822.1:c.99291T>G (TTN) XP_016860311.1:p.His33097Gln
XM_017004823.1:c.80907T>G (TTN) XP_016860312.1:p.His26969Gln
XM_024453094.1:c.102402T>G (TTN) XP_024308862.1:p.His34134Gln
XM_024453095.1:c.102399T>G (TTN) XP_024308863.1:p.His34133Gln
XM_024453096.1:c.101832T>G (TTN) XP_024308864.1:p.His33944Gln
XM_024453097.1:c.99174T>G (TTN) XP_024308865.1:p.His33058Gln
XM_024453098.1:c.99093T>G (TTN) XP_024308866.1:p.His33031Gln
XM_024453099.1:c.80856T>G (TTN) XP_024308867.1:p.His26952Gln
XM_024453100.1:c.70710T>G (TTN) XP_024308868.1:p.His23570Gln