Canonical Allele Identifier: CA349454979

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544219C>T , CM000664.2:g.178544219C>T GRCh38
NC_000002.11:g.179408946C>T , CM000664.1:g.179408946C>T GRCh37
NC_000002.10:g.179117192C>T NCBI36
NG_011618.3:g.291584G>A , LRG_391:g.291584G>A
NG_051363.1:g.26393C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.88306G>A (TTN) ENSP00000343764.6:p.Glu29436Lys
ENST00000342175.11:c.69391G>A (TTN) ENSP00000340554.6:p.Glu23131Lys
ENST00000359218.10:c.69190G>A (TTN) ENSP00000352154.5:p.Glu23064Lys
ENST00000342175.10:c.69391G>A (TTN) ENSP00000340554.6:p.Glu23131Lys
ENST00000342992.10:c.88306G>A (TTN) ENSP00000343764.6:p.Glu29436Lys
ENST00000359218.9:c.69190G>A (TTN) ENSP00000352154.5:p.Glu23064Lys
ENST00000460472.6:c.68815G>A (TTN) ENSP00000434586.1:p.Glu22939Lys
ENST00000589042.5:c.96010G>A (TTN) MANE Select ENSP00000467141.1:p.Glu32004Lys
ENST00000591111.5:c.91087G>A (TTN) ENSP00000465570.1:p.Glu30363Lys
ENST00000615779.4:c.91087G>A (TTN) ENSP00000483597.1:p.Glu30363Lys
NM_001256850.1:c.91087G>A (TTN) NP_001243779.1:p.Glu30363Lys
NM_001267550.2:c.96010G>A (TTN) MANE Select NP_001254479.2:p.Glu32004Lys
NM_003319.4:c.68815G>A (TTN) NP_003310.4:p.Glu22939Lys
NM_133378.4:c.88306G>A (TTN) NP_596869.4:p.Glu29436Lys
NM_133432.3:c.69190G>A (TTN) NP_597676.3:p.Glu23064Lys
NM_133437.4:c.69391G>A (TTN) NP_597681.4:p.Glu23131Lys
NR_038271.1:n.446+20583C>T (TTN-AS1)
NR_038272.1:n.2043+1858C>T (TTN-AS1)
XM_011511729.1:c.95107G>A (TTN) XP_011510031.1:p.Glu31703Lys
XM_011511730.1:c.69001G>A (TTN) XP_011510032.1:p.Glu23001Lys
XM_011511731.1:c.68860G>A (TTN) XP_011510033.1:p.Glu22954Lys
XM_017004819.1:c.94903G>A (TTN) XP_016860308.1:p.Glu31635Lys
XM_017004820.1:c.90301G>A (TTN) XP_016860309.1:p.Glu30101Lys
XM_017004821.1:c.90298G>A (TTN) XP_016860310.1:p.Glu30100Lys
XM_017004822.1:c.87340G>A (TTN) XP_016860311.1:p.Glu29114Lys
XM_017004823.1:c.68956G>A (TTN) XP_016860312.1:p.Glu22986Lys
XM_024453094.1:c.90451G>A (TTN) XP_024308862.1:p.Glu30151Lys
XM_024453095.1:c.90448G>A (TTN) XP_024308863.1:p.Glu30150Lys
XM_024453096.1:c.89881G>A (TTN) XP_024308864.1:p.Glu29961Lys
XM_024453097.1:c.87223G>A (TTN) XP_024308865.1:p.Glu29075Lys
XM_024453098.1:c.87142G>A (TTN) XP_024308866.1:p.Glu29048Lys
XM_024453099.1:c.68905G>A (TTN) XP_024308867.1:p.Glu22969Lys
XM_024453100.1:c.58759G>A (TTN) XP_024308868.1:p.Glu19587Lys