Canonical Allele Identifier: CA349413826
Community Standard Title: NM_001267550.2(TTN):c.103644T>G (p.Tyr34548Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532971A>C , CM000664.2:g.178532971A>C GRCh38
NC_000002.11:g.179397698A>C , CM000664.1:g.179397698A>C GRCh37
NC_000002.10:g.179105944A>C NCBI36
NG_011618.3:g.302832T>G , LRG_391:g.302832T>G
NG_051363.1:g.15145A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.103644T>G (TTN) MANE Select NP_001254479.2:p.Tyr34548Ter
ENST00000589042.5:c.103644T>G (TTN) MANE Select ENSP00000467141.1:p.Tyr34548Ter
NM_001256850.1:c.98721T>G (TTN) NP_001243779.1:p.Tyr32907Ter
NM_003319.4:c.76449T>G (TTN) NP_003310.4:p.Tyr25483Ter
NM_133378.4:c.95940T>G (TTN) NP_596869.4:p.Tyr31980Ter
NM_133432.3:c.76824T>G (TTN) NP_597676.3:p.Tyr25608Ter
NM_133437.4:c.77025T>G (TTN) NP_597681.4:p.Tyr25675Ter
NR_038271.1:n.446+9335A>C (TTN-AS1)
NR_038272.1:n.220-2761A>C (TTN-AS1)
ENST00000342175.10:c.77025T>G (TTN) ENSP00000340554.6:p.Tyr25675Ter
ENST00000342175.11:c.77025T>G (TTN) ENSP00000340554.6:p.Tyr25675Ter
ENST00000342992.10:c.95940T>G (TTN) ENSP00000343764.6:p.Tyr31980Ter
ENST00000342992.11:c.95940T>G (TTN) ENSP00000343764.6:p.Tyr31980Ter
ENST00000359218.10:c.76824T>G (TTN) ENSP00000352154.5:p.Tyr25608Ter
ENST00000359218.9:c.76824T>G (TTN) ENSP00000352154.5:p.Tyr25608Ter
ENST00000460472.6:c.76449T>G (TTN) ENSP00000434586.1:p.Tyr25483Ter
ENST00000591111.5:c.98721T>G (TTN) ENSP00000465570.1:p.Tyr32907Ter
ENST00000615779.4:c.98721T>G (TTN) ENSP00000483597.1:p.Tyr32907Ter
XM_011511729.1:c.102741T>G (TTN) XP_011510031.1:p.Tyr34247Ter
XM_011511730.1:c.76635T>G (TTN) XP_011510032.1:p.Tyr25545Ter
XM_011511731.1:c.76494T>G (TTN) XP_011510033.1:p.Tyr25498Ter
XM_017004819.1:c.102537T>G (TTN) XP_016860308.1:p.Tyr34179Ter
XM_017004820.1:c.97935T>G (TTN) XP_016860309.1:p.Tyr32645Ter
XM_017004821.1:c.97932T>G (TTN) XP_016860310.1:p.Tyr32644Ter
XM_017004822.1:c.94974T>G (TTN) XP_016860311.1:p.Tyr31658Ter
XM_017004823.1:c.76590T>G (TTN) XP_016860312.1:p.Tyr25530Ter
XM_024453094.1:c.98085T>G (TTN) XP_024308862.1:p.Tyr32695Ter
XM_024453095.1:c.98082T>G (TTN) XP_024308863.1:p.Tyr32694Ter
XM_024453096.1:c.97515T>G (TTN) XP_024308864.1:p.Tyr32505Ter
XM_024453097.1:c.94857T>G (TTN) XP_024308865.1:p.Tyr31619Ter
XM_024453098.1:c.94776T>G (TTN) XP_024308866.1:p.Tyr31592Ter
XM_024453099.1:c.76539T>G (TTN) XP_024308867.1:p.Tyr25513Ter
XM_024453100.1:c.66393T>G (TTN) XP_024308868.1:p.Tyr22131Ter