Canonical Allele Identifier: CA349417272

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178534059T>C , CM000664.2:g.178534059T>C GRCh38
NC_000002.11:g.179398786T>C , CM000664.1:g.179398786T>C GRCh37
NC_000002.10:g.179107032T>C NCBI36
NG_011618.3:g.301744A>G , LRG_391:g.301744A>G
NG_051363.1:g.16233T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.94852A>G (TTN) ENSP00000343764.6:p.Thr31618Ala
ENST00000342175.11:c.75937A>G (TTN) ENSP00000340554.6:p.Thr25313Ala
ENST00000359218.10:c.75736A>G (TTN) ENSP00000352154.5:p.Thr25246Ala
ENST00000342175.10:c.75937A>G (TTN) ENSP00000340554.6:p.Thr25313Ala
ENST00000342992.10:c.94852A>G (TTN) ENSP00000343764.6:p.Thr31618Ala
ENST00000359218.9:c.75736A>G (TTN) ENSP00000352154.5:p.Thr25246Ala
ENST00000460472.6:c.75361A>G (TTN) ENSP00000434586.1:p.Thr25121Ala
ENST00000589042.5:c.102556A>G (TTN) MANE Select ENSP00000467141.1:p.Thr34186Ala
ENST00000591111.5:c.97633A>G (TTN) ENSP00000465570.1:p.Thr32545Ala
ENST00000615779.4:c.97633A>G (TTN) ENSP00000483597.1:p.Thr32545Ala
NM_001256850.1:c.97633A>G (TTN) NP_001243779.1:p.Thr32545Ala
NM_001267550.2:c.102556A>G (TTN) MANE Select NP_001254479.2:p.Thr34186Ala
NM_003319.4:c.75361A>G (TTN) NP_003310.4:p.Thr25121Ala
NM_133378.4:c.94852A>G (TTN) NP_596869.4:p.Thr31618Ala
NM_133432.3:c.75736A>G (TTN) NP_597676.3:p.Thr25246Ala
NM_133437.4:c.75937A>G (TTN) NP_597681.4:p.Thr25313Ala
NR_038271.1:n.446+10423T>C (TTN-AS1)
NR_038272.1:n.220-1673T>C (TTN-AS1)
XM_011511729.1:c.101653A>G (TTN) XP_011510031.1:p.Thr33885Ala
XM_011511730.1:c.75547A>G (TTN) XP_011510032.1:p.Thr25183Ala
XM_011511731.1:c.75406A>G (TTN) XP_011510033.1:p.Thr25136Ala
XM_017004819.1:c.101449A>G (TTN) XP_016860308.1:p.Thr33817Ala
XM_017004820.1:c.96847A>G (TTN) XP_016860309.1:p.Thr32283Ala
XM_017004821.1:c.96844A>G (TTN) XP_016860310.1:p.Thr32282Ala
XM_017004822.1:c.93886A>G (TTN) XP_016860311.1:p.Thr31296Ala
XM_017004823.1:c.75502A>G (TTN) XP_016860312.1:p.Thr25168Ala
XM_024453094.1:c.96997A>G (TTN) XP_024308862.1:p.Thr32333Ala
XM_024453095.1:c.96994A>G (TTN) XP_024308863.1:p.Thr32332Ala
XM_024453096.1:c.96427A>G (TTN) XP_024308864.1:p.Thr32143Ala
XM_024453097.1:c.93769A>G (TTN) XP_024308865.1:p.Thr31257Ala
XM_024453098.1:c.93688A>G (TTN) XP_024308866.1:p.Thr31230Ala
XM_024453099.1:c.75451A>G (TTN) XP_024308867.1:p.Thr25151Ala
XM_024453100.1:c.65305A>G (TTN) XP_024308868.1:p.Thr21769Ala