Canonical Allele Identifier: CA349510813

Linked Data

dbSNP Id: rs1575520022

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178552469C>T , CM000664.2:g.178552469C>T GRCh38
NC_000002.11:g.179417196C>T , CM000664.1:g.179417196C>T GRCh37
NC_000002.10:g.179125442C>T NCBI36
NG_011618.3:g.283334G>A , LRG_391:g.283334G>A
NG_051363.1:g.34643C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.82727G>A (TTN) ENSP00000343764.6:p.Arg27576Lys
ENST00000342175.11:c.63812G>A (TTN) ENSP00000340554.6:p.Arg21271Lys
ENST00000359218.10:c.63611G>A (TTN) ENSP00000352154.5:p.Arg21204Lys
ENST00000342175.10:c.63812G>A (TTN) ENSP00000340554.6:p.Arg21271Lys
ENST00000342992.10:c.82727G>A (TTN) ENSP00000343764.6:p.Arg27576Lys
ENST00000359218.9:c.63611G>A (TTN) ENSP00000352154.5:p.Arg21204Lys
ENST00000460472.6:c.63236G>A (TTN) ENSP00000434586.1:p.Arg21079Lys
ENST00000589042.5:c.90431G>A (TTN) MANE Select ENSP00000467141.1:p.Arg30144Lys
ENST00000591111.5:c.85508G>A (TTN) ENSP00000465570.1:p.Arg28503Lys
ENST00000615779.4:c.85508G>A (TTN) ENSP00000483597.1:p.Arg28503Lys
NM_001256850.1:c.85508G>A (TTN) NP_001243779.1:p.Arg28503Lys
NM_001267550.2:c.90431G>A (TTN) MANE Select NP_001254479.2:p.Arg30144Lys
NM_003319.4:c.63236G>A (TTN) NP_003310.4:p.Arg21079Lys
NM_133378.4:c.82727G>A (TTN) NP_596869.4:p.Arg27576Lys
NM_133432.3:c.63611G>A (TTN) NP_597676.3:p.Arg21204Lys
NM_133437.4:c.63812G>A (TTN) NP_597681.4:p.Arg21271Lys
NR_038271.1:n.447-18831C>T (TTN-AS1)
NR_038272.1:n.2043+10108C>T (TTN-AS1)
XM_011511729.1:c.89528G>A (TTN) XP_011510031.1:p.Arg29843Lys
XM_011511730.1:c.63422G>A (TTN) XP_011510032.1:p.Arg21141Lys
XM_011511731.1:c.63281G>A (TTN) XP_011510033.1:p.Arg21094Lys
XM_017004819.1:c.89324G>A (TTN) XP_016860308.1:p.Arg29775Lys
XM_017004820.1:c.84722G>A (TTN) XP_016860309.1:p.Arg28241Lys
XM_017004821.1:c.84719G>A (TTN) XP_016860310.1:p.Arg28240Lys
XM_017004822.1:c.81761G>A (TTN) XP_016860311.1:p.Arg27254Lys
XM_017004823.1:c.63377G>A (TTN) XP_016860312.1:p.Arg21126Lys
XM_024453094.1:c.84872G>A (TTN) XP_024308862.1:p.Arg28291Lys
XM_024453095.1:c.84869G>A (TTN) XP_024308863.1:p.Arg28290Lys
XM_024453096.1:c.84302G>A (TTN) XP_024308864.1:p.Arg28101Lys
XM_024453097.1:c.81644G>A (TTN) XP_024308865.1:p.Arg27215Lys
XM_024453098.1:c.81563G>A (TTN) XP_024308866.1:p.Arg27188Lys
XM_024453099.1:c.63326G>A (TTN) XP_024308867.1:p.Arg21109Lys
XM_024453100.1:c.53180G>A (TTN) XP_024308868.1:p.Arg17727Lys