Canonical Allele Identifier: CA349427807

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178537581G>C , CM000664.2:g.178537581G>C GRCh38
NC_000002.11:g.179402308G>C , CM000664.1:g.179402308G>C GRCh37
NC_000002.10:g.179110554G>C NCBI36
NG_011618.3:g.298222C>G , LRG_391:g.298222C>G
NG_051363.1:g.19755G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.91922C>G (TTN) ENSP00000343764.6:p.Ala30641Gly
ENST00000342175.11:c.73007C>G (TTN) ENSP00000340554.6:p.Ala24336Gly
ENST00000359218.10:c.72806C>G (TTN) ENSP00000352154.5:p.Ala24269Gly
ENST00000342175.10:c.73007C>G (TTN) ENSP00000340554.6:p.Ala24336Gly
ENST00000342992.10:c.91922C>G (TTN) ENSP00000343764.6:p.Ala30641Gly
ENST00000359218.9:c.72806C>G (TTN) ENSP00000352154.5:p.Ala24269Gly
ENST00000460472.6:c.72431C>G (TTN) ENSP00000434586.1:p.Ala24144Gly
ENST00000589042.5:c.99626C>G (TTN) MANE Select ENSP00000467141.1:p.Ala33209Gly
ENST00000591111.5:c.94703C>G (TTN) ENSP00000465570.1:p.Ala31568Gly
ENST00000615779.4:c.94703C>G (TTN) ENSP00000483597.1:p.Ala31568Gly
NM_001256850.1:c.94703C>G (TTN) NP_001243779.1:p.Ala31568Gly
NM_001267550.2:c.99626C>G (TTN) MANE Select NP_001254479.2:p.Ala33209Gly
NM_003319.4:c.72431C>G (TTN) NP_003310.4:p.Ala24144Gly
NM_133378.4:c.91922C>G (TTN) NP_596869.4:p.Ala30641Gly
NM_133432.3:c.72806C>G (TTN) NP_597676.3:p.Ala24269Gly
NM_133437.4:c.73007C>G (TTN) NP_597681.4:p.Ala24336Gly
NR_038271.1:n.446+13945G>C (TTN-AS1)
NR_038272.1:n.537G>C (TTN-AS1)
XM_011511729.1:c.98723C>G (TTN) XP_011510031.1:p.Ala32908Gly
XM_011511730.1:c.72617C>G (TTN) XP_011510032.1:p.Ala24206Gly
XM_011511731.1:c.72476C>G (TTN) XP_011510033.1:p.Ala24159Gly
XM_017004819.1:c.98519C>G (TTN) XP_016860308.1:p.Ala32840Gly
XM_017004820.1:c.93917C>G (TTN) XP_016860309.1:p.Ala31306Gly
XM_017004821.1:c.93914C>G (TTN) XP_016860310.1:p.Ala31305Gly
XM_017004822.1:c.90956C>G (TTN) XP_016860311.1:p.Ala30319Gly
XM_017004823.1:c.72572C>G (TTN) XP_016860312.1:p.Ala24191Gly
XM_024453094.1:c.94067C>G (TTN) XP_024308862.1:p.Ala31356Gly
XM_024453095.1:c.94064C>G (TTN) XP_024308863.1:p.Ala31355Gly
XM_024453096.1:c.93497C>G (TTN) XP_024308864.1:p.Ala31166Gly
XM_024453097.1:c.90839C>G (TTN) XP_024308865.1:p.Ala30280Gly
XM_024453098.1:c.90758C>G (TTN) XP_024308866.1:p.Ala30253Gly
XM_024453099.1:c.72521C>G (TTN) XP_024308867.1:p.Ala24174Gly
XM_024453100.1:c.62375C>G (TTN) XP_024308868.1:p.Ala20792Gly