Canonical Allele Identifier: CA349417262

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178534054G>T , CM000664.2:g.178534054G>T GRCh38
NC_000002.11:g.179398781G>T , CM000664.1:g.179398781G>T GRCh37
NC_000002.10:g.179107027G>T NCBI36
NG_011618.3:g.301749C>A , LRG_391:g.301749C>A
NG_051363.1:g.16228G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.94857C>A (TTN) ENSP00000343764.6:p.Tyr31619Ter
ENST00000342175.11:c.75942C>A (TTN) ENSP00000340554.6:p.Tyr25314Ter
ENST00000359218.10:c.75741C>A (TTN) ENSP00000352154.5:p.Tyr25247Ter
ENST00000342175.10:c.75942C>A (TTN) ENSP00000340554.6:p.Tyr25314Ter
ENST00000342992.10:c.94857C>A (TTN) ENSP00000343764.6:p.Tyr31619Ter
ENST00000359218.9:c.75741C>A (TTN) ENSP00000352154.5:p.Tyr25247Ter
ENST00000460472.6:c.75366C>A (TTN) ENSP00000434586.1:p.Tyr25122Ter
ENST00000589042.5:c.102561C>A (TTN) MANE Select ENSP00000467141.1:p.Tyr34187Ter
ENST00000591111.5:c.97638C>A (TTN) ENSP00000465570.1:p.Tyr32546Ter
ENST00000615779.4:c.97638C>A (TTN) ENSP00000483597.1:p.Tyr32546Ter
NM_001256850.1:c.97638C>A (TTN) NP_001243779.1:p.Tyr32546Ter
NM_001267550.2:c.102561C>A (TTN) MANE Select NP_001254479.2:p.Tyr34187Ter
NM_003319.4:c.75366C>A (TTN) NP_003310.4:p.Tyr25122Ter
NM_133378.4:c.94857C>A (TTN) NP_596869.4:p.Tyr31619Ter
NM_133432.3:c.75741C>A (TTN) NP_597676.3:p.Tyr25247Ter
NM_133437.4:c.75942C>A (TTN) NP_597681.4:p.Tyr25314Ter
NR_038271.1:n.446+10418G>T (TTN-AS1)
NR_038272.1:n.220-1678G>T (TTN-AS1)
XM_011511729.1:c.101658C>A (TTN) XP_011510031.1:p.Tyr33886Ter
XM_011511730.1:c.75552C>A (TTN) XP_011510032.1:p.Tyr25184Ter
XM_011511731.1:c.75411C>A (TTN) XP_011510033.1:p.Tyr25137Ter
XM_017004819.1:c.101454C>A (TTN) XP_016860308.1:p.Tyr33818Ter
XM_017004820.1:c.96852C>A (TTN) XP_016860309.1:p.Tyr32284Ter
XM_017004821.1:c.96849C>A (TTN) XP_016860310.1:p.Tyr32283Ter
XM_017004822.1:c.93891C>A (TTN) XP_016860311.1:p.Tyr31297Ter
XM_017004823.1:c.75507C>A (TTN) XP_016860312.1:p.Tyr25169Ter
XM_024453094.1:c.97002C>A (TTN) XP_024308862.1:p.Tyr32334Ter
XM_024453095.1:c.96999C>A (TTN) XP_024308863.1:p.Tyr32333Ter
XM_024453096.1:c.96432C>A (TTN) XP_024308864.1:p.Tyr32144Ter
XM_024453097.1:c.93774C>A (TTN) XP_024308865.1:p.Tyr31258Ter
XM_024453098.1:c.93693C>A (TTN) XP_024308866.1:p.Tyr31231Ter
XM_024453099.1:c.75456C>A (TTN) XP_024308867.1:p.Tyr25152Ter
XM_024453100.1:c.65310C>A (TTN) XP_024308868.1:p.Tyr21770Ter