Canonical Allele Identifier: CA349417271

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.94852A>T (TTN) ENSP00000343764.6:p.Thr31618Ser
ENST00000342175.11:c.75937A>T (TTN) ENSP00000340554.6:p.Thr25313Ser
ENST00000359218.10:c.75736A>T (TTN) ENSP00000352154.5:p.Thr25246Ser
ENST00000342175.10:c.75937A>T (TTN) ENSP00000340554.6:p.Thr25313Ser
ENST00000342992.10:c.94852A>T (TTN) ENSP00000343764.6:p.Thr31618Ser
ENST00000359218.9:c.75736A>T (TTN) ENSP00000352154.5:p.Thr25246Ser
ENST00000460472.6:c.75361A>T (TTN) ENSP00000434586.1:p.Thr25121Ser
ENST00000589042.5:c.102556A>T (TTN) MANE Select ENSP00000467141.1:p.Thr34186Ser
ENST00000591111.5:c.97633A>T (TTN) ENSP00000465570.1:p.Thr32545Ser
ENST00000615779.4:c.97633A>T (TTN) ENSP00000483597.1:p.Thr32545Ser
NM_001256850.1:c.97633A>T (TTN) NP_001243779.1:p.Thr32545Ser
NM_001267550.2:c.102556A>T (TTN) MANE Select NP_001254479.2:p.Thr34186Ser
NM_003319.4:c.75361A>T (TTN) NP_003310.4:p.Thr25121Ser
NM_133378.4:c.94852A>T (TTN) NP_596869.4:p.Thr31618Ser
NM_133432.3:c.75736A>T (TTN) NP_597676.3:p.Thr25246Ser
NM_133437.4:c.75937A>T (TTN) NP_597681.4:p.Thr25313Ser
NR_038271.1:n.446+10423T>A (TTN-AS1)
NR_038272.1:n.220-1673T>A (TTN-AS1)
XM_011511729.1:c.101653A>T (TTN) XP_011510031.1:p.Thr33885Ser
XM_011511730.1:c.75547A>T (TTN) XP_011510032.1:p.Thr25183Ser
XM_011511731.1:c.75406A>T (TTN) XP_011510033.1:p.Thr25136Ser
XM_017004819.1:c.101449A>T (TTN) XP_016860308.1:p.Thr33817Ser
XM_017004820.1:c.96847A>T (TTN) XP_016860309.1:p.Thr32283Ser
XM_017004821.1:c.96844A>T (TTN) XP_016860310.1:p.Thr32282Ser
XM_017004822.1:c.93886A>T (TTN) XP_016860311.1:p.Thr31296Ser
XM_017004823.1:c.75502A>T (TTN) XP_016860312.1:p.Thr25168Ser
XM_024453094.1:c.96997A>T (TTN) XP_024308862.1:p.Thr32333Ser
XM_024453095.1:c.96994A>T (TTN) XP_024308863.1:p.Thr32332Ser
XM_024453096.1:c.96427A>T (TTN) XP_024308864.1:p.Thr32143Ser
XM_024453097.1:c.93769A>T (TTN) XP_024308865.1:p.Thr31257Ser
XM_024453098.1:c.93688A>T (TTN) XP_024308866.1:p.Thr31230Ser
XM_024453099.1:c.75451A>T (TTN) XP_024308867.1:p.Thr25151Ser
XM_024453100.1:c.65305A>T (TTN) XP_024308868.1:p.Thr21769Ser