Canonical Allele Identifier: CA349411833

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96688A>G (TTN) ENSP00000343764.6:p.Lys32230Glu
ENST00000342175.11:c.77773A>G (TTN) ENSP00000340554.6:p.Lys25925Glu
ENST00000359218.10:c.77572A>G (TTN) ENSP00000352154.5:p.Lys25858Glu
ENST00000342175.10:c.77773A>G (TTN) ENSP00000340554.6:p.Lys25925Glu
ENST00000342992.10:c.96688A>G (TTN) ENSP00000343764.6:p.Lys32230Glu
ENST00000359218.9:c.77572A>G (TTN) ENSP00000352154.5:p.Lys25858Glu
ENST00000460472.6:c.77197A>G (TTN) ENSP00000434586.1:p.Lys25733Glu
ENST00000589042.5:c.104392A>G (TTN) MANE Select ENSP00000467141.1:p.Lys34798Glu
ENST00000591111.5:c.99469A>G (TTN) ENSP00000465570.1:p.Lys33157Glu
ENST00000615779.4:c.99469A>G (TTN) ENSP00000483597.1:p.Lys33157Glu
NM_001256850.1:c.99469A>G (TTN) NP_001243779.1:p.Lys33157Glu
NM_001267550.2:c.104392A>G (TTN) MANE Select NP_001254479.2:p.Lys34798Glu
NM_003319.4:c.77197A>G (TTN) NP_003310.4:p.Lys25733Glu
NM_133378.4:c.96688A>G (TTN) NP_596869.4:p.Lys32230Glu
NM_133432.3:c.77572A>G (TTN) NP_597676.3:p.Lys25858Glu
NM_133437.4:c.77773A>G (TTN) NP_597681.4:p.Lys25925Glu
NR_038271.1:n.446+8587T>C (TTN-AS1)
NR_038272.1:n.220-3509T>C (TTN-AS1)
XM_011511729.1:c.103489A>G (TTN) XP_011510031.1:p.Lys34497Glu
XM_011511730.1:c.77383A>G (TTN) XP_011510032.1:p.Lys25795Glu
XM_011511731.1:c.77242A>G (TTN) XP_011510033.1:p.Lys25748Glu
XM_017004819.1:c.103285A>G (TTN) XP_016860308.1:p.Lys34429Glu
XM_017004820.1:c.98683A>G (TTN) XP_016860309.1:p.Lys32895Glu
XM_017004821.1:c.98680A>G (TTN) XP_016860310.1:p.Lys32894Glu
XM_017004822.1:c.95722A>G (TTN) XP_016860311.1:p.Lys31908Glu
XM_017004823.1:c.77338A>G (TTN) XP_016860312.1:p.Lys25780Glu
XM_024453094.1:c.98833A>G (TTN) XP_024308862.1:p.Lys32945Glu
XM_024453095.1:c.98830A>G (TTN) XP_024308863.1:p.Lys32944Glu
XM_024453096.1:c.98263A>G (TTN) XP_024308864.1:p.Lys32755Glu
XM_024453097.1:c.95605A>G (TTN) XP_024308865.1:p.Lys31869Glu
XM_024453098.1:c.95524A>G (TTN) XP_024308866.1:p.Lys31842Glu
XM_024453099.1:c.77287A>G (TTN) XP_024308867.1:p.Lys25763Glu
XM_024453100.1:c.67141A>G (TTN) XP_024308868.1:p.Lys22381Glu