Canonical Allele Identifier: CA1987129

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178547039C>T , CM000664.2:g.178547039C>T GRCh38
NC_000002.11:g.179411766C>T , CM000664.1:g.179411766C>T GRCh37
NC_000002.10:g.179120012C>T NCBI36
NG_011618.3:g.288764G>A , LRG_391:g.288764G>A
NG_051363.1:g.29213C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.86782G>A (TTN) ENSP00000343764.6:p.Glu28928Lys
ENST00000342175.11:c.67867G>A (TTN) ENSP00000340554.6:p.Glu22623Lys
ENST00000359218.10:c.67666G>A (TTN) ENSP00000352154.5:p.Glu22556Lys
ENST00000342175.10:c.67867G>A (TTN) ENSP00000340554.6:p.Glu22623Lys
ENST00000342992.10:c.86782G>A (TTN) ENSP00000343764.6:p.Glu28928Lys
ENST00000359218.9:c.67666G>A (TTN) ENSP00000352154.5:p.Glu22556Lys
ENST00000460472.6:c.67291G>A (TTN) ENSP00000434586.1:p.Glu22431Lys
ENST00000589042.5:c.94486G>A (TTN) MANE Select ENSP00000467141.1:p.Glu31496Lys
ENST00000591111.5:c.89563G>A (TTN) ENSP00000465570.1:p.Glu29855Lys
ENST00000615779.4:c.89563G>A (TTN) ENSP00000483597.1:p.Glu29855Lys
NM_001256850.1:c.89563G>A (TTN) NP_001243779.1:p.Glu29855Lys
NM_001267550.2:c.94486G>A (TTN) MANE Select NP_001254479.2:p.Glu31496Lys
NM_003319.4:c.67291G>A (TTN) NP_003310.4:p.Glu22431Lys
NM_133378.4:c.86782G>A (TTN) NP_596869.4:p.Glu28928Lys
NM_133432.3:c.67666G>A (TTN) NP_597676.3:p.Glu22556Lys
NM_133437.4:c.67867G>A (TTN) NP_597681.4:p.Glu22623Lys
NR_038271.1:n.446+23403C>T (TTN-AS1)
NR_038272.1:n.2043+4678C>T (TTN-AS1)
XM_011511729.1:c.93583G>A (TTN) XP_011510031.1:p.Glu31195Lys
XM_011511730.1:c.67477G>A (TTN) XP_011510032.1:p.Glu22493Lys
XM_011511731.1:c.67336G>A (TTN) XP_011510033.1:p.Glu22446Lys
XM_017004819.1:c.93379G>A (TTN) XP_016860308.1:p.Glu31127Lys
XM_017004820.1:c.88777G>A (TTN) XP_016860309.1:p.Glu29593Lys
XM_017004821.1:c.88774G>A (TTN) XP_016860310.1:p.Glu29592Lys
XM_017004822.1:c.85816G>A (TTN) XP_016860311.1:p.Glu28606Lys
XM_017004823.1:c.67432G>A (TTN) XP_016860312.1:p.Glu22478Lys
XM_024453094.1:c.88927G>A (TTN) XP_024308862.1:p.Glu29643Lys
XM_024453095.1:c.88924G>A (TTN) XP_024308863.1:p.Glu29642Lys
XM_024453096.1:c.88357G>A (TTN) XP_024308864.1:p.Glu29453Lys
XM_024453097.1:c.85699G>A (TTN) XP_024308865.1:p.Glu28567Lys
XM_024453098.1:c.85618G>A (TTN) XP_024308866.1:p.Glu28540Lys
XM_024453099.1:c.67381G>A (TTN) XP_024308867.1:p.Glu22461Lys
XM_024453100.1:c.57235G>A (TTN) XP_024308868.1:p.Glu19079Lys