Canonical Allele Identifier: CA349407198

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530591A>T , CM000664.2:g.178530591A>T GRCh38
NC_000002.11:g.179395318A>T , CM000664.1:g.179395318A>T GRCh37
NC_000002.10:g.179103564A>T NCBI36
NG_011618.3:g.305212T>A , LRG_391:g.305212T>A
NG_051363.1:g.12765A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98320T>A (TTN) ENSP00000343764.6:p.Tyr32774Asn
ENST00000342175.11:c.79405T>A (TTN) ENSP00000340554.6:p.Tyr26469Asn
ENST00000359218.10:c.79204T>A (TTN) ENSP00000352154.5:p.Tyr26402Asn
ENST00000342175.10:c.79405T>A (TTN) ENSP00000340554.6:p.Tyr26469Asn
ENST00000342992.10:c.98320T>A (TTN) ENSP00000343764.6:p.Tyr32774Asn
ENST00000359218.9:c.79204T>A (TTN) ENSP00000352154.5:p.Tyr26402Asn
ENST00000460472.6:c.78829T>A (TTN) ENSP00000434586.1:p.Tyr26277Asn
ENST00000589042.5:c.106024T>A (TTN) MANE Select ENSP00000467141.1:p.Tyr35342Asn
ENST00000591111.5:c.101101T>A (TTN) ENSP00000465570.1:p.Tyr33701Asn
ENST00000615779.4:c.101101T>A (TTN) ENSP00000483597.1:p.Tyr33701Asn
NM_001256850.1:c.101101T>A (TTN) NP_001243779.1:p.Tyr33701Asn
NM_001267550.2:c.106024T>A (TTN) MANE Select NP_001254479.2:p.Tyr35342Asn
NM_003319.4:c.78829T>A (TTN) NP_003310.4:p.Tyr26277Asn
NM_133378.4:c.98320T>A (TTN) NP_596869.4:p.Tyr32774Asn
NM_133432.3:c.79204T>A (TTN) NP_597676.3:p.Tyr26402Asn
NM_133437.4:c.79405T>A (TTN) NP_597681.4:p.Tyr26469Asn
NR_038271.1:n.446+6955A>T (TTN-AS1)
NR_038272.1:n.220-5141A>T (TTN-AS1)
XM_011511729.1:c.105121T>A (TTN) XP_011510031.1:p.Tyr35041Asn
XM_011511730.1:c.79015T>A (TTN) XP_011510032.1:p.Tyr26339Asn
XM_011511731.1:c.78874T>A (TTN) XP_011510033.1:p.Tyr26292Asn
XM_017004819.1:c.104917T>A (TTN) XP_016860308.1:p.Tyr34973Asn
XM_017004820.1:c.100315T>A (TTN) XP_016860309.1:p.Tyr33439Asn
XM_017004821.1:c.100312T>A (TTN) XP_016860310.1:p.Tyr33438Asn
XM_017004822.1:c.97354T>A (TTN) XP_016860311.1:p.Tyr32452Asn
XM_017004823.1:c.78970T>A (TTN) XP_016860312.1:p.Tyr26324Asn
XM_024453094.1:c.100465T>A (TTN) XP_024308862.1:p.Tyr33489Asn
XM_024453095.1:c.100462T>A (TTN) XP_024308863.1:p.Tyr33488Asn
XM_024453096.1:c.99895T>A (TTN) XP_024308864.1:p.Tyr33299Asn
XM_024453097.1:c.97237T>A (TTN) XP_024308865.1:p.Tyr32413Asn
XM_024453098.1:c.97156T>A (TTN) XP_024308866.1:p.Tyr32386Asn
XM_024453099.1:c.78919T>A (TTN) XP_024308867.1:p.Tyr26307Asn
XM_024453100.1:c.68773T>A (TTN) XP_024308868.1:p.Tyr22925Asn