Canonical Allele Identifier: CA309935
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178614663C>T , CM000664.2:g.178614663C>T GRCh38
NC_000002.11:g.179479390C>T , CM000664.1:g.179479390C>T GRCh37
NC_000002.10:g.179187635C>T NCBI36
NG_011618.3:g.221140G>A , LRG_391:g.221140G>A
NG_051363.1:g.96837C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.41147G>A (TTN) ENSP00000343764.6:p.Gly13716Glu
ENST00000342175.11:c.22232G>A (TTN) ENSP00000340554.6:p.Gly7411Glu
ENST00000359218.10:c.22031G>A (TTN) ENSP00000352154.5:p.Gly7344Glu
ENST00000342175.10:c.22232G>A (TTN) ENSP00000340554.6:p.Gly7411Glu
ENST00000342992.10:c.41147G>A (TTN) ENSP00000343764.6:p.Gly13716Glu
ENST00000359218.9:c.22031G>A (TTN) ENSP00000352154.5:p.Gly7344Glu
ENST00000460472.6:c.21656G>A (TTN) ENSP00000434586.1:p.Gly7219Glu
ENST00000589042.5:c.48851G>A (TTN) MANE Select ENSP00000467141.1:p.Gly16284Glu
ENST00000591111.5:c.43928G>A (TTN) ENSP00000465570.1:p.Gly14643Glu
ENST00000615779.4:c.43928G>A (TTN) ENSP00000483597.1:p.Gly14643Glu
NM_001256850.1:c.43928G>A (TTN) NP_001243779.1:p.Gly14643Glu
NM_001267550.2:c.48851G>A (TTN) MANE Select NP_001254479.2:p.Gly16284Glu
NM_003319.4:c.21656G>A (TTN) NP_003310.4:p.Gly7219Glu
NM_133378.4:c.41147G>A (TTN) NP_596869.4:p.Gly13716Glu
NM_133432.3:c.22031G>A (TTN) NP_597676.3:p.Gly7344Glu
NM_133437.4:c.22232G>A (TTN) NP_597681.4:p.Gly7411Glu
NR_038271.1:n.1411C>T (TTN-AS1)
XM_011511729.1:c.47948G>A (TTN) XP_011510031.1:p.Gly15983Glu
XM_011511730.1:c.21842G>A (TTN) XP_011510032.1:p.Gly7281Glu
XM_011511731.1:c.21701G>A (TTN) XP_011510033.1:p.Gly7234Glu
XM_017004819.1:c.47744G>A (TTN) XP_016860308.1:p.Gly15915Glu
XM_017004820.1:c.43142G>A (TTN) XP_016860309.1:p.Gly14381Glu
XM_017004821.1:c.43139G>A (TTN) XP_016860310.1:p.Gly14380Glu
XM_017004822.1:c.40181G>A (TTN) XP_016860311.1:p.Gly13394Glu
XM_017004823.1:c.21797G>A (TTN) XP_016860312.1:p.Gly7266Glu
XM_024453094.1:c.43292G>A (TTN) XP_024308862.1:p.Gly14431Glu
XM_024453095.1:c.43289G>A (TTN) XP_024308863.1:p.Gly14430Glu
XM_024453096.1:c.42722G>A (TTN) XP_024308864.1:p.Gly14241Glu
XM_024453097.1:c.40064G>A (TTN) XP_024308865.1:p.Gly13355Glu
XM_024453098.1:c.39983G>A (TTN) XP_024308866.1:p.Gly13328Glu
XM_024453099.1:c.21746G>A (TTN) XP_024308867.1:p.Gly7249Glu
XM_024453100.1:c.11600G>A (TTN) XP_024308868.1:p.Gly3867Glu