Canonical Allele Identifier: CA349478886

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178547632C>A , CM000664.2:g.178547632C>A GRCh38
NC_000002.11:g.179412359C>A , CM000664.1:g.179412359C>A GRCh37
NC_000002.10:g.179120605C>A NCBI36
NG_011618.3:g.288171G>T , LRG_391:g.288171G>T
NG_051363.1:g.29806C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.86290G>T (TTN) ENSP00000343764.6:p.Glu28764Ter
ENST00000342175.11:c.67375G>T (TTN) ENSP00000340554.6:p.Glu22459Ter
ENST00000359218.10:c.67174G>T (TTN) ENSP00000352154.5:p.Glu22392Ter
ENST00000342175.10:c.67375G>T (TTN) ENSP00000340554.6:p.Glu22459Ter
ENST00000342992.10:c.86290G>T (TTN) ENSP00000343764.6:p.Glu28764Ter
ENST00000359218.9:c.67174G>T (TTN) ENSP00000352154.5:p.Glu22392Ter
ENST00000460472.6:c.66799G>T (TTN) ENSP00000434586.1:p.Glu22267Ter
ENST00000589042.5:c.93994G>T (TTN) MANE Select ENSP00000467141.1:p.Glu31332Ter
ENST00000591111.5:c.89071G>T (TTN) ENSP00000465570.1:p.Glu29691Ter
ENST00000615779.4:c.89071G>T (TTN) ENSP00000483597.1:p.Glu29691Ter
NM_001256850.1:c.89071G>T (TTN) NP_001243779.1:p.Glu29691Ter
NM_001267550.2:c.93994G>T (TTN) MANE Select NP_001254479.2:p.Glu31332Ter
NM_003319.4:c.66799G>T (TTN) NP_003310.4:p.Glu22267Ter
NM_133378.4:c.86290G>T (TTN) NP_596869.4:p.Glu28764Ter
NM_133432.3:c.67174G>T (TTN) NP_597676.3:p.Glu22392Ter
NM_133437.4:c.67375G>T (TTN) NP_597681.4:p.Glu22459Ter
NR_038271.1:n.447-23668C>A (TTN-AS1)
NR_038272.1:n.2043+5271C>A (TTN-AS1)
XM_011511729.1:c.93091G>T (TTN) XP_011510031.1:p.Glu31031Ter
XM_011511730.1:c.66985G>T (TTN) XP_011510032.1:p.Glu22329Ter
XM_011511731.1:c.66844G>T (TTN) XP_011510033.1:p.Glu22282Ter
XM_017004819.1:c.92887G>T (TTN) XP_016860308.1:p.Glu30963Ter
XM_017004820.1:c.88285G>T (TTN) XP_016860309.1:p.Glu29429Ter
XM_017004821.1:c.88282G>T (TTN) XP_016860310.1:p.Glu29428Ter
XM_017004822.1:c.85324G>T (TTN) XP_016860311.1:p.Glu28442Ter
XM_017004823.1:c.66940G>T (TTN) XP_016860312.1:p.Glu22314Ter
XM_024453094.1:c.88435G>T (TTN) XP_024308862.1:p.Glu29479Ter
XM_024453095.1:c.88432G>T (TTN) XP_024308863.1:p.Glu29478Ter
XM_024453096.1:c.87865G>T (TTN) XP_024308864.1:p.Glu29289Ter
XM_024453097.1:c.85207G>T (TTN) XP_024308865.1:p.Glu28403Ter
XM_024453098.1:c.85126G>T (TTN) XP_024308866.1:p.Glu28376Ter
XM_024453099.1:c.66889G>T (TTN) XP_024308867.1:p.Glu22297Ter
XM_024453100.1:c.56743G>T (TTN) XP_024308868.1:p.Glu18915Ter