Canonical Allele Identifier: CA349537766
Community Standard Title: NM_001267550.2(TTN):c.87233T>G (p.Leu29078Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178558121A>C , CM000664.2:g.178558121A>C GRCh38
NC_000002.11:g.179422848A>C , CM000664.1:g.179422848A>C GRCh37
NC_000002.10:g.179131094A>C NCBI36
NG_011618.3:g.277682T>G , LRG_391:g.277682T>G
NG_051363.1:g.40295A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.87233T>G (TTN) MANE Select NP_001254479.2:p.Leu29078Ter
ENST00000589042.5:c.87233T>G (TTN) MANE Select ENSP00000467141.1:p.Leu29078Ter
NM_001256850.1:c.82310T>G (TTN) NP_001243779.1:p.Leu27437Ter
NM_003319.4:c.60038T>G (TTN) NP_003310.4:p.Leu20013Ter
NM_133378.4:c.79529T>G (TTN) NP_596869.4:p.Leu26510Ter
NM_133432.3:c.60413T>G (TTN) NP_597676.3:p.Leu20138Ter
NM_133437.4:c.60614T>G (TTN) NP_597681.4:p.Leu20205Ter
NR_038271.1:n.447-13179A>C (TTN-AS1)
NR_038272.1:n.2043+15760A>C (TTN-AS1)
ENST00000342175.10:c.60614T>G (TTN) ENSP00000340554.6:p.Leu20205Ter
ENST00000342175.11:c.60614T>G (TTN) ENSP00000340554.6:p.Leu20205Ter
ENST00000342992.10:c.79529T>G (TTN) ENSP00000343764.6:p.Leu26510Ter
ENST00000342992.11:c.79529T>G (TTN) ENSP00000343764.6:p.Leu26510Ter
ENST00000359218.10:c.60413T>G (TTN) ENSP00000352154.5:p.Leu20138Ter
ENST00000359218.9:c.60413T>G (TTN) ENSP00000352154.5:p.Leu20138Ter
ENST00000460472.6:c.60038T>G (TTN) ENSP00000434586.1:p.Leu20013Ter
ENST00000591111.5:c.82310T>G (TTN) ENSP00000465570.1:p.Leu27437Ter
ENST00000615779.4:c.82310T>G (TTN) ENSP00000483597.1:p.Leu27437Ter
XM_011511729.1:c.86330T>G (TTN) XP_011510031.1:p.Leu28777Ter
XM_011511730.1:c.60224T>G (TTN) XP_011510032.1:p.Leu20075Ter
XM_011511731.1:c.60083T>G (TTN) XP_011510033.1:p.Leu20028Ter
XM_017004819.1:c.86126T>G (TTN) XP_016860308.1:p.Leu28709Ter
XM_017004820.1:c.81524T>G (TTN) XP_016860309.1:p.Leu27175Ter
XM_017004821.1:c.81521T>G (TTN) XP_016860310.1:p.Leu27174Ter
XM_017004822.1:c.78563T>G (TTN) XP_016860311.1:p.Leu26188Ter
XM_017004823.1:c.60179T>G (TTN) XP_016860312.1:p.Leu20060Ter
XM_024453094.1:c.81674T>G (TTN) XP_024308862.1:p.Leu27225Ter
XM_024453095.1:c.81671T>G (TTN) XP_024308863.1:p.Leu27224Ter
XM_024453096.1:c.81104T>G (TTN) XP_024308864.1:p.Leu27035Ter
XM_024453097.1:c.78446T>G (TTN) XP_024308865.1:p.Leu26149Ter
XM_024453098.1:c.78365T>G (TTN) XP_024308866.1:p.Leu26122Ter
XM_024453099.1:c.60128T>G (TTN) XP_024308867.1:p.Leu20043Ter
XM_024453100.1:c.49982T>G (TTN) XP_024308868.1:p.Leu16661Ter