Canonical Allele Identifier: CA349419643
Community Standard Title: NM_001267550.2(TTN):c.101757T>G (p.Tyr33919Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178534858A>C , CM000664.2:g.178534858A>C GRCh38
NC_000002.11:g.179399585A>C , CM000664.1:g.179399585A>C GRCh37
NC_000002.10:g.179107831A>C NCBI36
NG_011618.3:g.300945T>G , LRG_391:g.300945T>G
NG_051363.1:g.17032A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.101757T>G (TTN) MANE Select NP_001254479.2:p.Tyr33919Ter
ENST00000589042.5:c.101757T>G (TTN) MANE Select ENSP00000467141.1:p.Tyr33919Ter
NM_001256850.1:c.96834T>G (TTN) NP_001243779.1:p.Tyr32278Ter
NM_003319.4:c.74562T>G (TTN) NP_003310.4:p.Tyr24854Ter
NM_133378.4:c.94053T>G (TTN) NP_596869.4:p.Tyr31351Ter
NM_133432.3:c.74937T>G (TTN) NP_597676.3:p.Tyr24979Ter
NM_133437.4:c.75138T>G (TTN) NP_597681.4:p.Tyr25046Ter
NR_038271.1:n.446+11222A>C (TTN-AS1)
NR_038272.1:n.220-874A>C (TTN-AS1)
ENST00000342175.10:c.75138T>G (TTN) ENSP00000340554.6:p.Tyr25046Ter
ENST00000342175.11:c.75138T>G (TTN) ENSP00000340554.6:p.Tyr25046Ter
ENST00000342992.10:c.94053T>G (TTN) ENSP00000343764.6:p.Tyr31351Ter
ENST00000342992.11:c.94053T>G (TTN) ENSP00000343764.6:p.Tyr31351Ter
ENST00000359218.10:c.74937T>G (TTN) ENSP00000352154.5:p.Tyr24979Ter
ENST00000359218.9:c.74937T>G (TTN) ENSP00000352154.5:p.Tyr24979Ter
ENST00000460472.6:c.74562T>G (TTN) ENSP00000434586.1:p.Tyr24854Ter
ENST00000591111.5:c.96834T>G (TTN) ENSP00000465570.1:p.Tyr32278Ter
ENST00000615779.4:c.96834T>G (TTN) ENSP00000483597.1:p.Tyr32278Ter
XM_011511729.1:c.100854T>G (TTN) XP_011510031.1:p.Tyr33618Ter
XM_011511730.1:c.74748T>G (TTN) XP_011510032.1:p.Tyr24916Ter
XM_011511731.1:c.74607T>G (TTN) XP_011510033.1:p.Tyr24869Ter
XM_017004819.1:c.100650T>G (TTN) XP_016860308.1:p.Tyr33550Ter
XM_017004820.1:c.96048T>G (TTN) XP_016860309.1:p.Tyr32016Ter
XM_017004821.1:c.96045T>G (TTN) XP_016860310.1:p.Tyr32015Ter
XM_017004822.1:c.93087T>G (TTN) XP_016860311.1:p.Tyr31029Ter
XM_017004823.1:c.74703T>G (TTN) XP_016860312.1:p.Tyr24901Ter
XM_024453094.1:c.96198T>G (TTN) XP_024308862.1:p.Tyr32066Ter
XM_024453095.1:c.96195T>G (TTN) XP_024308863.1:p.Tyr32065Ter
XM_024453096.1:c.95628T>G (TTN) XP_024308864.1:p.Tyr31876Ter
XM_024453097.1:c.92970T>G (TTN) XP_024308865.1:p.Tyr30990Ter
XM_024453098.1:c.92889T>G (TTN) XP_024308866.1:p.Tyr30963Ter
XM_024453099.1:c.74652T>G (TTN) XP_024308867.1:p.Tyr24884Ter
XM_024453100.1:c.64506T>G (TTN) XP_024308868.1:p.Tyr21502Ter