Canonical Allele Identifier: CA349406997

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530497T>G , CM000664.2:g.178530497T>G GRCh38
NC_000002.11:g.179395224T>G , CM000664.1:g.179395224T>G GRCh37
NC_000002.10:g.179103470T>G NCBI36
NG_011618.3:g.305306A>C , LRG_391:g.305306A>C
NG_051363.1:g.12671T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98414A>C (TTN) ENSP00000343764.6:p.Gln32805Pro
ENST00000342175.11:c.79499A>C (TTN) ENSP00000340554.6:p.Gln26500Pro
ENST00000359218.10:c.79298A>C (TTN) ENSP00000352154.5:p.Gln26433Pro
ENST00000342175.10:c.79499A>C (TTN) ENSP00000340554.6:p.Gln26500Pro
ENST00000342992.10:c.98414A>C (TTN) ENSP00000343764.6:p.Gln32805Pro
ENST00000359218.9:c.79298A>C (TTN) ENSP00000352154.5:p.Gln26433Pro
ENST00000460472.6:c.78923A>C (TTN) ENSP00000434586.1:p.Gln26308Pro
ENST00000589042.5:c.106118A>C (TTN) MANE Select ENSP00000467141.1:p.Gln35373Pro
ENST00000591111.5:c.101195A>C (TTN) ENSP00000465570.1:p.Gln33732Pro
ENST00000615779.4:c.101195A>C (TTN) ENSP00000483597.1:p.Gln33732Pro
NM_001256850.1:c.101195A>C (TTN) NP_001243779.1:p.Gln33732Pro
NM_001267550.2:c.106118A>C (TTN) MANE Select NP_001254479.2:p.Gln35373Pro
NM_003319.4:c.78923A>C (TTN) NP_003310.4:p.Gln26308Pro
NM_133378.4:c.98414A>C (TTN) NP_596869.4:p.Gln32805Pro
NM_133432.3:c.79298A>C (TTN) NP_597676.3:p.Gln26433Pro
NM_133437.4:c.79499A>C (TTN) NP_597681.4:p.Gln26500Pro
NR_038271.1:n.446+6861T>G (TTN-AS1)
NR_038272.1:n.220-5235T>G (TTN-AS1)
XM_011511729.1:c.105215A>C (TTN) XP_011510031.1:p.Gln35072Pro
XM_011511730.1:c.79109A>C (TTN) XP_011510032.1:p.Gln26370Pro
XM_011511731.1:c.78968A>C (TTN) XP_011510033.1:p.Gln26323Pro
XM_017004819.1:c.105011A>C (TTN) XP_016860308.1:p.Gln35004Pro
XM_017004820.1:c.100409A>C (TTN) XP_016860309.1:p.Gln33470Pro
XM_017004821.1:c.100406A>C (TTN) XP_016860310.1:p.Gln33469Pro
XM_017004822.1:c.97448A>C (TTN) XP_016860311.1:p.Gln32483Pro
XM_017004823.1:c.79064A>C (TTN) XP_016860312.1:p.Gln26355Pro
XM_024453094.1:c.100559A>C (TTN) XP_024308862.1:p.Gln33520Pro
XM_024453095.1:c.100556A>C (TTN) XP_024308863.1:p.Gln33519Pro
XM_024453096.1:c.99989A>C (TTN) XP_024308864.1:p.Gln33330Pro
XM_024453097.1:c.97331A>C (TTN) XP_024308865.1:p.Gln32444Pro
XM_024453098.1:c.97250A>C (TTN) XP_024308866.1:p.Gln32417Pro
XM_024453099.1:c.79013A>C (TTN) XP_024308867.1:p.Gln26338Pro
XM_024453100.1:c.68867A>C (TTN) XP_024308868.1:p.Gln22956Pro