Canonical Allele Identifier: CA349473280

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178547020A>T , CM000664.2:g.178547020A>T GRCh38
NC_000002.11:g.179411747A>T , CM000664.1:g.179411747A>T GRCh37
NC_000002.10:g.179119993A>T NCBI36
NG_011618.3:g.288783T>A , LRG_391:g.288783T>A
NG_051363.1:g.29194A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.86801T>A (TTN) ENSP00000343764.6:p.Met28934Lys
ENST00000342175.11:c.67886T>A (TTN) ENSP00000340554.6:p.Met22629Lys
ENST00000359218.10:c.67685T>A (TTN) ENSP00000352154.5:p.Met22562Lys
ENST00000342175.10:c.67886T>A (TTN) ENSP00000340554.6:p.Met22629Lys
ENST00000342992.10:c.86801T>A (TTN) ENSP00000343764.6:p.Met28934Lys
ENST00000359218.9:c.67685T>A (TTN) ENSP00000352154.5:p.Met22562Lys
ENST00000460472.6:c.67310T>A (TTN) ENSP00000434586.1:p.Met22437Lys
ENST00000589042.5:c.94505T>A (TTN) MANE Select ENSP00000467141.1:p.Met31502Lys
ENST00000591111.5:c.89582T>A (TTN) ENSP00000465570.1:p.Met29861Lys
ENST00000615779.4:c.89582T>A (TTN) ENSP00000483597.1:p.Met29861Lys
NM_001256850.1:c.89582T>A (TTN) NP_001243779.1:p.Met29861Lys
NM_001267550.2:c.94505T>A (TTN) MANE Select NP_001254479.2:p.Met31502Lys
NM_003319.4:c.67310T>A (TTN) NP_003310.4:p.Met22437Lys
NM_133378.4:c.86801T>A (TTN) NP_596869.4:p.Met28934Lys
NM_133432.3:c.67685T>A (TTN) NP_597676.3:p.Met22562Lys
NM_133437.4:c.67886T>A (TTN) NP_597681.4:p.Met22629Lys
NR_038271.1:n.446+23384A>T (TTN-AS1)
NR_038272.1:n.2043+4659A>T (TTN-AS1)
XM_011511729.1:c.93602T>A (TTN) XP_011510031.1:p.Met31201Lys
XM_011511730.1:c.67496T>A (TTN) XP_011510032.1:p.Met22499Lys
XM_011511731.1:c.67355T>A (TTN) XP_011510033.1:p.Met22452Lys
XM_017004819.1:c.93398T>A (TTN) XP_016860308.1:p.Met31133Lys
XM_017004820.1:c.88796T>A (TTN) XP_016860309.1:p.Met29599Lys
XM_017004821.1:c.88793T>A (TTN) XP_016860310.1:p.Met29598Lys
XM_017004822.1:c.85835T>A (TTN) XP_016860311.1:p.Met28612Lys
XM_017004823.1:c.67451T>A (TTN) XP_016860312.1:p.Met22484Lys
XM_024453094.1:c.88946T>A (TTN) XP_024308862.1:p.Met29649Lys
XM_024453095.1:c.88943T>A (TTN) XP_024308863.1:p.Met29648Lys
XM_024453096.1:c.88376T>A (TTN) XP_024308864.1:p.Met29459Lys
XM_024453097.1:c.85718T>A (TTN) XP_024308865.1:p.Met28573Lys
XM_024453098.1:c.85637T>A (TTN) XP_024308866.1:p.Met28546Lys
XM_024453099.1:c.67400T>A (TTN) XP_024308867.1:p.Met22467Lys
XM_024453100.1:c.57254T>A (TTN) XP_024308868.1:p.Met19085Lys