Canonical Allele Identifier: CA349417270

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178534058G>T , CM000664.2:g.178534058G>T GRCh38
NC_000002.11:g.179398785G>T , CM000664.1:g.179398785G>T GRCh37
NC_000002.10:g.179107031G>T NCBI36
NG_011618.3:g.301745C>A , LRG_391:g.301745C>A
NG_051363.1:g.16232G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.94853C>A (TTN) ENSP00000343764.6:p.Thr31618Asn
ENST00000342175.11:c.75938C>A (TTN) ENSP00000340554.6:p.Thr25313Asn
ENST00000359218.10:c.75737C>A (TTN) ENSP00000352154.5:p.Thr25246Asn
ENST00000342175.10:c.75938C>A (TTN) ENSP00000340554.6:p.Thr25313Asn
ENST00000342992.10:c.94853C>A (TTN) ENSP00000343764.6:p.Thr31618Asn
ENST00000359218.9:c.75737C>A (TTN) ENSP00000352154.5:p.Thr25246Asn
ENST00000460472.6:c.75362C>A (TTN) ENSP00000434586.1:p.Thr25121Asn
ENST00000589042.5:c.102557C>A (TTN) MANE Select ENSP00000467141.1:p.Thr34186Asn
ENST00000591111.5:c.97634C>A (TTN) ENSP00000465570.1:p.Thr32545Asn
ENST00000615779.4:c.97634C>A (TTN) ENSP00000483597.1:p.Thr32545Asn
NM_001256850.1:c.97634C>A (TTN) NP_001243779.1:p.Thr32545Asn
NM_001267550.2:c.102557C>A (TTN) MANE Select NP_001254479.2:p.Thr34186Asn
NM_003319.4:c.75362C>A (TTN) NP_003310.4:p.Thr25121Asn
NM_133378.4:c.94853C>A (TTN) NP_596869.4:p.Thr31618Asn
NM_133432.3:c.75737C>A (TTN) NP_597676.3:p.Thr25246Asn
NM_133437.4:c.75938C>A (TTN) NP_597681.4:p.Thr25313Asn
NR_038271.1:n.446+10422G>T (TTN-AS1)
NR_038272.1:n.220-1674G>T (TTN-AS1)
XM_011511729.1:c.101654C>A (TTN) XP_011510031.1:p.Thr33885Asn
XM_011511730.1:c.75548C>A (TTN) XP_011510032.1:p.Thr25183Asn
XM_011511731.1:c.75407C>A (TTN) XP_011510033.1:p.Thr25136Asn
XM_017004819.1:c.101450C>A (TTN) XP_016860308.1:p.Thr33817Asn
XM_017004820.1:c.96848C>A (TTN) XP_016860309.1:p.Thr32283Asn
XM_017004821.1:c.96845C>A (TTN) XP_016860310.1:p.Thr32282Asn
XM_017004822.1:c.93887C>A (TTN) XP_016860311.1:p.Thr31296Asn
XM_017004823.1:c.75503C>A (TTN) XP_016860312.1:p.Thr25168Asn
XM_024453094.1:c.96998C>A (TTN) XP_024308862.1:p.Thr32333Asn
XM_024453095.1:c.96995C>A (TTN) XP_024308863.1:p.Thr32332Asn
XM_024453096.1:c.96428C>A (TTN) XP_024308864.1:p.Thr32143Asn
XM_024453097.1:c.93770C>A (TTN) XP_024308865.1:p.Thr31257Asn
XM_024453098.1:c.93689C>A (TTN) XP_024308866.1:p.Thr31230Asn
XM_024453099.1:c.75452C>A (TTN) XP_024308867.1:p.Thr25151Asn
XM_024453100.1:c.65306C>A (TTN) XP_024308868.1:p.Thr21769Asn