Canonical Allele Identifier: CA349648278

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.64456T>C (TTN) ENSP00000343764.6:p.Ser21486Pro
ENST00000342175.11:c.45541T>C (TTN) ENSP00000340554.6:p.Ser15181Pro
ENST00000359218.10:c.45340T>C (TTN) ENSP00000352154.5:p.Ser15114Pro
ENST00000342175.10:c.45541T>C (TTN) ENSP00000340554.6:p.Ser15181Pro
ENST00000342992.10:c.64456T>C (TTN) ENSP00000343764.6:p.Ser21486Pro
ENST00000359218.9:c.45340T>C (TTN) ENSP00000352154.5:p.Ser15114Pro
ENST00000460472.6:c.44965T>C (TTN) ENSP00000434586.1:p.Ser14989Pro
ENST00000589042.5:c.72160T>C (TTN) MANE Select ENSP00000467141.1:p.Ser24054Pro
ENST00000591111.5:c.67237T>C (TTN) ENSP00000465570.1:p.Ser22413Pro
ENST00000615779.4:c.67237T>C (TTN) ENSP00000483597.1:p.Ser22413Pro
NM_001256850.1:c.67237T>C (TTN) NP_001243779.1:p.Ser22413Pro
NM_001267550.2:c.72160T>C (TTN) MANE Select NP_001254479.2:p.Ser24054Pro
NM_003319.4:c.44965T>C (TTN) NP_003310.4:p.Ser14989Pro
NM_133378.4:c.64456T>C (TTN) NP_596869.4:p.Ser21486Pro
NM_133432.3:c.45340T>C (TTN) NP_597676.3:p.Ser15114Pro
NM_133437.4:c.45541T>C (TTN) NP_597681.4:p.Ser15181Pro
NR_038271.1:n.596+2523A>G (TTN-AS1)
NR_038272.1:n.2044-8600A>G (TTN-AS1)
XM_011511729.1:c.71257T>C (TTN) XP_011510031.1:p.Ser23753Pro
XM_011511730.1:c.45151T>C (TTN) XP_011510032.1:p.Ser15051Pro
XM_011511731.1:c.45010T>C (TTN) XP_011510033.1:p.Ser15004Pro
XM_017004819.1:c.71053T>C (TTN) XP_016860308.1:p.Ser23685Pro
XM_017004820.1:c.66451T>C (TTN) XP_016860309.1:p.Ser22151Pro
XM_017004821.1:c.66448T>C (TTN) XP_016860310.1:p.Ser22150Pro
XM_017004822.1:c.63490T>C (TTN) XP_016860311.1:p.Ser21164Pro
XM_017004823.1:c.45106T>C (TTN) XP_016860312.1:p.Ser15036Pro
XM_024453094.1:c.66601T>C (TTN) XP_024308862.1:p.Ser22201Pro
XM_024453095.1:c.66598T>C (TTN) XP_024308863.1:p.Ser22200Pro
XM_024453096.1:c.66031T>C (TTN) XP_024308864.1:p.Ser22011Pro
XM_024453097.1:c.63373T>C (TTN) XP_024308865.1:p.Ser21125Pro
XM_024453098.1:c.63292T>C (TTN) XP_024308866.1:p.Ser21098Pro
XM_024453099.1:c.45055T>C (TTN) XP_024308867.1:p.Ser15019Pro
XM_024453100.1:c.34909T>C (TTN) XP_024308868.1:p.Ser11637Pro