Canonical Allele Identifier: CA349411834

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532223T>G , CM000664.2:g.178532223T>G GRCh38
NC_000002.11:g.179396950T>G , CM000664.1:g.179396950T>G GRCh37
NC_000002.10:g.179105196T>G NCBI36
NG_011618.3:g.303580A>C , LRG_391:g.303580A>C
NG_051363.1:g.14397T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96688A>C (TTN) ENSP00000343764.6:p.Lys32230Gln
ENST00000342175.11:c.77773A>C (TTN) ENSP00000340554.6:p.Lys25925Gln
ENST00000359218.10:c.77572A>C (TTN) ENSP00000352154.5:p.Lys25858Gln
ENST00000342175.10:c.77773A>C (TTN) ENSP00000340554.6:p.Lys25925Gln
ENST00000342992.10:c.96688A>C (TTN) ENSP00000343764.6:p.Lys32230Gln
ENST00000359218.9:c.77572A>C (TTN) ENSP00000352154.5:p.Lys25858Gln
ENST00000460472.6:c.77197A>C (TTN) ENSP00000434586.1:p.Lys25733Gln
ENST00000589042.5:c.104392A>C (TTN) MANE Select ENSP00000467141.1:p.Lys34798Gln
ENST00000591111.5:c.99469A>C (TTN) ENSP00000465570.1:p.Lys33157Gln
ENST00000615779.4:c.99469A>C (TTN) ENSP00000483597.1:p.Lys33157Gln
NM_001256850.1:c.99469A>C (TTN) NP_001243779.1:p.Lys33157Gln
NM_001267550.2:c.104392A>C (TTN) MANE Select NP_001254479.2:p.Lys34798Gln
NM_003319.4:c.77197A>C (TTN) NP_003310.4:p.Lys25733Gln
NM_133378.4:c.96688A>C (TTN) NP_596869.4:p.Lys32230Gln
NM_133432.3:c.77572A>C (TTN) NP_597676.3:p.Lys25858Gln
NM_133437.4:c.77773A>C (TTN) NP_597681.4:p.Lys25925Gln
NR_038271.1:n.446+8587T>G (TTN-AS1)
NR_038272.1:n.220-3509T>G (TTN-AS1)
XM_011511729.1:c.103489A>C (TTN) XP_011510031.1:p.Lys34497Gln
XM_011511730.1:c.77383A>C (TTN) XP_011510032.1:p.Lys25795Gln
XM_011511731.1:c.77242A>C (TTN) XP_011510033.1:p.Lys25748Gln
XM_017004819.1:c.103285A>C (TTN) XP_016860308.1:p.Lys34429Gln
XM_017004820.1:c.98683A>C (TTN) XP_016860309.1:p.Lys32895Gln
XM_017004821.1:c.98680A>C (TTN) XP_016860310.1:p.Lys32894Gln
XM_017004822.1:c.95722A>C (TTN) XP_016860311.1:p.Lys31908Gln
XM_017004823.1:c.77338A>C (TTN) XP_016860312.1:p.Lys25780Gln
XM_024453094.1:c.98833A>C (TTN) XP_024308862.1:p.Lys32945Gln
XM_024453095.1:c.98830A>C (TTN) XP_024308863.1:p.Lys32944Gln
XM_024453096.1:c.98263A>C (TTN) XP_024308864.1:p.Lys32755Gln
XM_024453097.1:c.95605A>C (TTN) XP_024308865.1:p.Lys31869Gln
XM_024453098.1:c.95524A>C (TTN) XP_024308866.1:p.Lys31842Gln
XM_024453099.1:c.77287A>C (TTN) XP_024308867.1:p.Lys25763Gln
XM_024453100.1:c.67141A>C (TTN) XP_024308868.1:p.Lys22381Gln