Canonical Allele Identifier: CA349427863

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178537605G>C , CM000664.2:g.178537605G>C GRCh38
NC_000002.11:g.179402332G>C , CM000664.1:g.179402332G>C GRCh37
NC_000002.10:g.179110578G>C NCBI36
NG_011618.3:g.298198C>G , LRG_391:g.298198C>G
NG_051363.1:g.19779G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.91898C>G (TTN) ENSP00000343764.6:p.Pro30633Arg
ENST00000342175.11:c.72983C>G (TTN) ENSP00000340554.6:p.Pro24328Arg
ENST00000359218.10:c.72782C>G (TTN) ENSP00000352154.5:p.Pro24261Arg
ENST00000342175.10:c.72983C>G (TTN) ENSP00000340554.6:p.Pro24328Arg
ENST00000342992.10:c.91898C>G (TTN) ENSP00000343764.6:p.Pro30633Arg
ENST00000359218.9:c.72782C>G (TTN) ENSP00000352154.5:p.Pro24261Arg
ENST00000460472.6:c.72407C>G (TTN) ENSP00000434586.1:p.Pro24136Arg
ENST00000589042.5:c.99602C>G (TTN) MANE Select ENSP00000467141.1:p.Pro33201Arg
ENST00000591111.5:c.94679C>G (TTN) ENSP00000465570.1:p.Pro31560Arg
ENST00000615779.4:c.94679C>G (TTN) ENSP00000483597.1:p.Pro31560Arg
NM_001256850.1:c.94679C>G (TTN) NP_001243779.1:p.Pro31560Arg
NM_001267550.2:c.99602C>G (TTN) MANE Select NP_001254479.2:p.Pro33201Arg
NM_003319.4:c.72407C>G (TTN) NP_003310.4:p.Pro24136Arg
NM_133378.4:c.91898C>G (TTN) NP_596869.4:p.Pro30633Arg
NM_133432.3:c.72782C>G (TTN) NP_597676.3:p.Pro24261Arg
NM_133437.4:c.72983C>G (TTN) NP_597681.4:p.Pro24328Arg
NR_038271.1:n.446+13969G>C (TTN-AS1)
NR_038272.1:n.561G>C (TTN-AS1)
XM_011511729.1:c.98699C>G (TTN) XP_011510031.1:p.Pro32900Arg
XM_011511730.1:c.72593C>G (TTN) XP_011510032.1:p.Pro24198Arg
XM_011511731.1:c.72452C>G (TTN) XP_011510033.1:p.Pro24151Arg
XM_017004819.1:c.98495C>G (TTN) XP_016860308.1:p.Pro32832Arg
XM_017004820.1:c.93893C>G (TTN) XP_016860309.1:p.Pro31298Arg
XM_017004821.1:c.93890C>G (TTN) XP_016860310.1:p.Pro31297Arg
XM_017004822.1:c.90932C>G (TTN) XP_016860311.1:p.Pro30311Arg
XM_017004823.1:c.72548C>G (TTN) XP_016860312.1:p.Pro24183Arg
XM_024453094.1:c.94043C>G (TTN) XP_024308862.1:p.Pro31348Arg
XM_024453095.1:c.94040C>G (TTN) XP_024308863.1:p.Pro31347Arg
XM_024453096.1:c.93473C>G (TTN) XP_024308864.1:p.Pro31158Arg
XM_024453097.1:c.90815C>G (TTN) XP_024308865.1:p.Pro30272Arg
XM_024453098.1:c.90734C>G (TTN) XP_024308866.1:p.Pro30245Arg
XM_024453099.1:c.72497C>G (TTN) XP_024308867.1:p.Pro24166Arg
XM_024453100.1:c.62351C>G (TTN) XP_024308868.1:p.Pro20784Arg