Canonical Allele Identifier: CA349450789

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543878T>G , CM000664.2:g.178543878T>G GRCh38
NC_000002.11:g.179408605T>G , CM000664.1:g.179408605T>G GRCh37
NC_000002.10:g.179116851T>G NCBI36
NG_011618.3:g.291925A>C , LRG_391:g.291925A>C
NG_051363.1:g.26052T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88562A>C (TTN) ENSP00000343764.6:p.Asn29521Thr
ENST00000342175.11:c.69647A>C (TTN) ENSP00000340554.6:p.Asn23216Thr
ENST00000359218.10:c.69446A>C (TTN) ENSP00000352154.5:p.Asn23149Thr
ENST00000342175.10:c.69647A>C (TTN) ENSP00000340554.6:p.Asn23216Thr
ENST00000342992.10:c.88562A>C (TTN) ENSP00000343764.6:p.Asn29521Thr
ENST00000359218.9:c.69446A>C (TTN) ENSP00000352154.5:p.Asn23149Thr
ENST00000460472.6:c.69071A>C (TTN) ENSP00000434586.1:p.Asn23024Thr
ENST00000589042.5:c.96266A>C (TTN) MANE Select ENSP00000467141.1:p.Asn32089Thr
ENST00000591111.5:c.91343A>C (TTN) ENSP00000465570.1:p.Asn30448Thr
ENST00000615779.4:c.91343A>C (TTN) ENSP00000483597.1:p.Asn30448Thr
NM_001256850.1:c.91343A>C (TTN) NP_001243779.1:p.Asn30448Thr
NM_001267550.2:c.96266A>C (TTN) MANE Select NP_001254479.2:p.Asn32089Thr
NM_003319.4:c.69071A>C (TTN) NP_003310.4:p.Asn23024Thr
NM_133378.4:c.88562A>C (TTN) NP_596869.4:p.Asn29521Thr
NM_133432.3:c.69446A>C (TTN) NP_597676.3:p.Asn23149Thr
NM_133437.4:c.69647A>C (TTN) NP_597681.4:p.Asn23216Thr
NR_038271.1:n.446+20242T>G (TTN-AS1)
NR_038272.1:n.2043+1517T>G (TTN-AS1)
XM_011511729.1:c.95363A>C (TTN) XP_011510031.1:p.Asn31788Thr
XM_011511730.1:c.69257A>C (TTN) XP_011510032.1:p.Asn23086Thr
XM_011511731.1:c.69116A>C (TTN) XP_011510033.1:p.Asn23039Thr
XM_017004819.1:c.95159A>C (TTN) XP_016860308.1:p.Asn31720Thr
XM_017004820.1:c.90557A>C (TTN) XP_016860309.1:p.Asn30186Thr
XM_017004821.1:c.90554A>C (TTN) XP_016860310.1:p.Asn30185Thr
XM_017004822.1:c.87596A>C (TTN) XP_016860311.1:p.Asn29199Thr
XM_017004823.1:c.69212A>C (TTN) XP_016860312.1:p.Asn23071Thr
XM_024453094.1:c.90707A>C (TTN) XP_024308862.1:p.Asn30236Thr
XM_024453095.1:c.90704A>C (TTN) XP_024308863.1:p.Asn30235Thr
XM_024453096.1:c.90137A>C (TTN) XP_024308864.1:p.Asn30046Thr
XM_024453097.1:c.87479A>C (TTN) XP_024308865.1:p.Asn29160Thr
XM_024453098.1:c.87398A>C (TTN) XP_024308866.1:p.Asn29133Thr
XM_024453099.1:c.69161A>C (TTN) XP_024308867.1:p.Asn23054Thr
XM_024453100.1:c.59015A>C (TTN) XP_024308868.1:p.Asn19672Thr