Canonical Allele Identifier: CA349648276

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178573972A>T , CM000664.2:g.178573972A>T GRCh38
NC_000002.11:g.179438699A>T , CM000664.1:g.179438699A>T GRCh37
NC_000002.10:g.179146945A>T NCBI36
NG_011618.3:g.261831T>A , LRG_391:g.261831T>A
NG_051363.1:g.56146A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.64456T>A (TTN) ENSP00000343764.6:p.Ser21486Thr
ENST00000342175.11:c.45541T>A (TTN) ENSP00000340554.6:p.Ser15181Thr
ENST00000359218.10:c.45340T>A (TTN) ENSP00000352154.5:p.Ser15114Thr
ENST00000342175.10:c.45541T>A (TTN) ENSP00000340554.6:p.Ser15181Thr
ENST00000342992.10:c.64456T>A (TTN) ENSP00000343764.6:p.Ser21486Thr
ENST00000359218.9:c.45340T>A (TTN) ENSP00000352154.5:p.Ser15114Thr
ENST00000460472.6:c.44965T>A (TTN) ENSP00000434586.1:p.Ser14989Thr
ENST00000589042.5:c.72160T>A (TTN) MANE Select ENSP00000467141.1:p.Ser24054Thr
ENST00000591111.5:c.67237T>A (TTN) ENSP00000465570.1:p.Ser22413Thr
ENST00000615779.4:c.67237T>A (TTN) ENSP00000483597.1:p.Ser22413Thr
NM_001256850.1:c.67237T>A (TTN) NP_001243779.1:p.Ser22413Thr
NM_001267550.2:c.72160T>A (TTN) MANE Select NP_001254479.2:p.Ser24054Thr
NM_003319.4:c.44965T>A (TTN) NP_003310.4:p.Ser14989Thr
NM_133378.4:c.64456T>A (TTN) NP_596869.4:p.Ser21486Thr
NM_133432.3:c.45340T>A (TTN) NP_597676.3:p.Ser15114Thr
NM_133437.4:c.45541T>A (TTN) NP_597681.4:p.Ser15181Thr
NR_038271.1:n.596+2523A>T (TTN-AS1)
NR_038272.1:n.2044-8600A>T (TTN-AS1)
XM_011511729.1:c.71257T>A (TTN) XP_011510031.1:p.Ser23753Thr
XM_011511730.1:c.45151T>A (TTN) XP_011510032.1:p.Ser15051Thr
XM_011511731.1:c.45010T>A (TTN) XP_011510033.1:p.Ser15004Thr
XM_017004819.1:c.71053T>A (TTN) XP_016860308.1:p.Ser23685Thr
XM_017004820.1:c.66451T>A (TTN) XP_016860309.1:p.Ser22151Thr
XM_017004821.1:c.66448T>A (TTN) XP_016860310.1:p.Ser22150Thr
XM_017004822.1:c.63490T>A (TTN) XP_016860311.1:p.Ser21164Thr
XM_017004823.1:c.45106T>A (TTN) XP_016860312.1:p.Ser15036Thr
XM_024453094.1:c.66601T>A (TTN) XP_024308862.1:p.Ser22201Thr
XM_024453095.1:c.66598T>A (TTN) XP_024308863.1:p.Ser22200Thr
XM_024453096.1:c.66031T>A (TTN) XP_024308864.1:p.Ser22011Thr
XM_024453097.1:c.63373T>A (TTN) XP_024308865.1:p.Ser21125Thr
XM_024453098.1:c.63292T>A (TTN) XP_024308866.1:p.Ser21098Thr
XM_024453099.1:c.45055T>A (TTN) XP_024308867.1:p.Ser15019Thr
XM_024453100.1:c.34909T>A (TTN) XP_024308868.1:p.Ser11637Thr