Canonical Allele Identifier: CA349424907
Community Standard Title: NM_001267550.2(TTN):c.100704C>A (p.Tyr33568Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178536043G>T , CM000664.2:g.178536043G>T GRCh38
NC_000002.11:g.179400770G>T , CM000664.1:g.179400770G>T GRCh37
NC_000002.10:g.179109016G>T NCBI36
NG_011618.3:g.299760C>A , LRG_391:g.299760C>A
NG_051363.1:g.18217G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.100704C>A (TTN) MANE Select NP_001254479.2:p.Tyr33568Ter
ENST00000589042.5:c.100704C>A (TTN) MANE Select ENSP00000467141.1:p.Tyr33568Ter
NM_001256850.1:c.95781C>A (TTN) NP_001243779.1:p.Tyr31927Ter
NM_003319.4:c.73509C>A (TTN) NP_003310.4:p.Tyr24503Ter
NM_133378.4:c.93000C>A (TTN) NP_596869.4:p.Tyr31000Ter
NM_133432.3:c.73884C>A (TTN) NP_597676.3:p.Tyr24628Ter
NM_133437.4:c.74085C>A (TTN) NP_597681.4:p.Tyr24695Ter
NR_038271.1:n.446+12407G>T (TTN-AS1)
NR_038272.1:n.316+215G>T (TTN-AS1)
ENST00000342175.10:c.74085C>A (TTN) ENSP00000340554.6:p.Tyr24695Ter
ENST00000342175.11:c.74085C>A (TTN) ENSP00000340554.6:p.Tyr24695Ter
ENST00000342992.10:c.93000C>A (TTN) ENSP00000343764.6:p.Tyr31000Ter
ENST00000342992.11:c.93000C>A (TTN) ENSP00000343764.6:p.Tyr31000Ter
ENST00000359218.10:c.73884C>A (TTN) ENSP00000352154.5:p.Tyr24628Ter
ENST00000359218.9:c.73884C>A (TTN) ENSP00000352154.5:p.Tyr24628Ter
ENST00000460472.6:c.73509C>A (TTN) ENSP00000434586.1:p.Tyr24503Ter
ENST00000591111.5:c.95781C>A (TTN) ENSP00000465570.1:p.Tyr31927Ter
ENST00000615779.4:c.95781C>A (TTN) ENSP00000483597.1:p.Tyr31927Ter
XM_011511729.1:c.99801C>A (TTN) XP_011510031.1:p.Tyr33267Ter
XM_011511730.1:c.73695C>A (TTN) XP_011510032.1:p.Tyr24565Ter
XM_011511731.1:c.73554C>A (TTN) XP_011510033.1:p.Tyr24518Ter
XM_017004819.1:c.99597C>A (TTN) XP_016860308.1:p.Tyr33199Ter
XM_017004820.1:c.94995C>A (TTN) XP_016860309.1:p.Tyr31665Ter
XM_017004821.1:c.94992C>A (TTN) XP_016860310.1:p.Tyr31664Ter
XM_017004822.1:c.92034C>A (TTN) XP_016860311.1:p.Tyr30678Ter
XM_017004823.1:c.73650C>A (TTN) XP_016860312.1:p.Tyr24550Ter
XM_024453094.1:c.95145C>A (TTN) XP_024308862.1:p.Tyr31715Ter
XM_024453095.1:c.95142C>A (TTN) XP_024308863.1:p.Tyr31714Ter
XM_024453096.1:c.94575C>A (TTN) XP_024308864.1:p.Tyr31525Ter
XM_024453097.1:c.91917C>A (TTN) XP_024308865.1:p.Tyr30639Ter
XM_024453098.1:c.91836C>A (TTN) XP_024308866.1:p.Tyr30612Ter
XM_024453099.1:c.73599C>A (TTN) XP_024308867.1:p.Tyr24533Ter
XM_024453100.1:c.63453C>A (TTN) XP_024308868.1:p.Tyr21151Ter