Canonical Allele Identifier: CA349450713

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543873A>T , CM000664.2:g.178543873A>T GRCh38
NC_000002.11:g.179408600A>T , CM000664.1:g.179408600A>T GRCh37
NC_000002.10:g.179116846A>T NCBI36
NG_011618.3:g.291930T>A , LRG_391:g.291930T>A
NG_051363.1:g.26047A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88567T>A (TTN) ENSP00000343764.6:p.Ser29523Thr
ENST00000342175.11:c.69652T>A (TTN) ENSP00000340554.6:p.Ser23218Thr
ENST00000359218.10:c.69451T>A (TTN) ENSP00000352154.5:p.Ser23151Thr
ENST00000342175.10:c.69652T>A (TTN) ENSP00000340554.6:p.Ser23218Thr
ENST00000342992.10:c.88567T>A (TTN) ENSP00000343764.6:p.Ser29523Thr
ENST00000359218.9:c.69451T>A (TTN) ENSP00000352154.5:p.Ser23151Thr
ENST00000460472.6:c.69076T>A (TTN) ENSP00000434586.1:p.Ser23026Thr
ENST00000589042.5:c.96271T>A (TTN) MANE Select ENSP00000467141.1:p.Ser32091Thr
ENST00000591111.5:c.91348T>A (TTN) ENSP00000465570.1:p.Ser30450Thr
ENST00000615779.4:c.91348T>A (TTN) ENSP00000483597.1:p.Ser30450Thr
NM_001256850.1:c.91348T>A (TTN) NP_001243779.1:p.Ser30450Thr
NM_001267550.2:c.96271T>A (TTN) MANE Select NP_001254479.2:p.Ser32091Thr
NM_003319.4:c.69076T>A (TTN) NP_003310.4:p.Ser23026Thr
NM_133378.4:c.88567T>A (TTN) NP_596869.4:p.Ser29523Thr
NM_133432.3:c.69451T>A (TTN) NP_597676.3:p.Ser23151Thr
NM_133437.4:c.69652T>A (TTN) NP_597681.4:p.Ser23218Thr
NR_038271.1:n.446+20237A>T (TTN-AS1)
NR_038272.1:n.2043+1512A>T (TTN-AS1)
XM_011511729.1:c.95368T>A (TTN) XP_011510031.1:p.Ser31790Thr
XM_011511730.1:c.69262T>A (TTN) XP_011510032.1:p.Ser23088Thr
XM_011511731.1:c.69121T>A (TTN) XP_011510033.1:p.Ser23041Thr
XM_017004819.1:c.95164T>A (TTN) XP_016860308.1:p.Ser31722Thr
XM_017004820.1:c.90562T>A (TTN) XP_016860309.1:p.Ser30188Thr
XM_017004821.1:c.90559T>A (TTN) XP_016860310.1:p.Ser30187Thr
XM_017004822.1:c.87601T>A (TTN) XP_016860311.1:p.Ser29201Thr
XM_017004823.1:c.69217T>A (TTN) XP_016860312.1:p.Ser23073Thr
XM_024453094.1:c.90712T>A (TTN) XP_024308862.1:p.Ser30238Thr
XM_024453095.1:c.90709T>A (TTN) XP_024308863.1:p.Ser30237Thr
XM_024453096.1:c.90142T>A (TTN) XP_024308864.1:p.Ser30048Thr
XM_024453097.1:c.87484T>A (TTN) XP_024308865.1:p.Ser29162Thr
XM_024453098.1:c.87403T>A (TTN) XP_024308866.1:p.Ser29135Thr
XM_024453099.1:c.69166T>A (TTN) XP_024308867.1:p.Ser23056Thr
XM_024453100.1:c.59020T>A (TTN) XP_024308868.1:p.Ser19674Thr