Canonical Allele Identifier: CA349424321

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178580110T>G , CM000664.2:g.178580110T>G GRCh38
NC_000002.11:g.179444837T>G , CM000664.1:g.179444837T>G GRCh37
NC_000002.10:g.179153083T>G NCBI36
NG_011618.3:g.255693A>C , LRG_391:g.255693A>C
NG_051363.1:g.62284T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.59473A>C (TTN) ENSP00000343764.6:p.Lys19825Gln
ENST00000342175.11:c.40558A>C (TTN) ENSP00000340554.6:p.Lys13520Gln
ENST00000359218.10:c.40357A>C (TTN) ENSP00000352154.5:p.Lys13453Gln
ENST00000342175.10:c.40558A>C (TTN) ENSP00000340554.6:p.Lys13520Gln
ENST00000342992.10:c.59473A>C (TTN) ENSP00000343764.6:p.Lys19825Gln
ENST00000359218.9:c.40357A>C (TTN) ENSP00000352154.5:p.Lys13453Gln
ENST00000460472.6:c.39982A>C (TTN) ENSP00000434586.1:p.Lys13328Gln
ENST00000589042.5:c.67177A>C (TTN) MANE Select ENSP00000467141.1:p.Lys22393Gln
ENST00000591111.5:c.62254A>C (TTN) ENSP00000465570.1:p.Lys20752Gln
ENST00000615779.4:c.62254A>C (TTN) ENSP00000483597.1:p.Lys20752Gln
NM_001256850.1:c.62254A>C (TTN) NP_001243779.1:p.Lys20752Gln
NM_001267550.2:c.67177A>C (TTN) MANE Select NP_001254479.2:p.Lys22393Gln
NM_003319.4:c.39982A>C (TTN) NP_003310.4:p.Lys13328Gln
NM_133378.4:c.59473A>C (TTN) NP_596869.4:p.Lys19825Gln
NM_133432.3:c.40357A>C (TTN) NP_597676.3:p.Lys13453Gln
NM_133437.4:c.40558A>C (TTN) NP_597681.4:p.Lys13520Gln
NR_038271.1:n.596+8661T>G (TTN-AS1)
NR_038272.1:n.2044-2462T>G (TTN-AS1)
XM_011511729.1:c.66274A>C (TTN) XP_011510031.1:p.Lys22092Gln
XM_011511730.1:c.40168A>C (TTN) XP_011510032.1:p.Lys13390Gln
XM_011511731.1:c.40027A>C (TTN) XP_011510033.1:p.Lys13343Gln
XM_017004819.1:c.66070A>C (TTN) XP_016860308.1:p.Lys22024Gln
XM_017004820.1:c.61468A>C (TTN) XP_016860309.1:p.Lys20490Gln
XM_017004821.1:c.61465A>C (TTN) XP_016860310.1:p.Lys20489Gln
XM_017004822.1:c.58507A>C (TTN) XP_016860311.1:p.Lys19503Gln
XM_017004823.1:c.40123A>C (TTN) XP_016860312.1:p.Lys13375Gln
XM_024453094.1:c.61618A>C (TTN) XP_024308862.1:p.Lys20540Gln
XM_024453095.1:c.61615A>C (TTN) XP_024308863.1:p.Lys20539Gln
XM_024453096.1:c.61048A>C (TTN) XP_024308864.1:p.Lys20350Gln
XM_024453097.1:c.58390A>C (TTN) XP_024308865.1:p.Lys19464Gln
XM_024453098.1:c.58309A>C (TTN) XP_024308866.1:p.Lys19437Gln
XM_024453099.1:c.40072A>C (TTN) XP_024308867.1:p.Lys13358Gln
XM_024453100.1:c.29926A>C (TTN) XP_024308868.1:p.Lys9976Gln