Canonical Allele Identifier: CA349567510
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178607494T>C , CM000664.2:g.178607494T>C GRCh38
NC_000002.11:g.179472221T>C , CM000664.1:g.179472221T>C GRCh37
NC_000002.10:g.179180466T>C NCBI36
NG_011618.3:g.228309A>G , LRG_391:g.228309A>G
NG_051363.1:g.89668T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.45490A>G (TTN) ENSP00000343764.6:p.Lys15164Glu
ENST00000342175.11:c.26575A>G (TTN) ENSP00000340554.6:p.Lys8859Glu
ENST00000359218.10:c.26374A>G (TTN) ENSP00000352154.5:p.Lys8792Glu
ENST00000342175.10:c.26575A>G (TTN) ENSP00000340554.6:p.Lys8859Glu
ENST00000342992.10:c.45490A>G (TTN) ENSP00000343764.6:p.Lys15164Glu
ENST00000359218.9:c.26374A>G (TTN) ENSP00000352154.5:p.Lys8792Glu
ENST00000460472.6:c.25999A>G (TTN) ENSP00000434586.1:p.Lys8667Glu
ENST00000589042.5:c.53194A>G (TTN) MANE Select ENSP00000467141.1:p.Lys17732Glu
ENST00000591111.5:c.48271A>G (TTN) ENSP00000465570.1:p.Lys16091Glu
ENST00000615779.4:c.48271A>G (TTN) ENSP00000483597.1:p.Lys16091Glu
NM_001256850.1:c.48271A>G (TTN) NP_001243779.1:p.Lys16091Glu
NM_001267550.2:c.53194A>G (TTN) MANE Select NP_001254479.2:p.Lys17732Glu
NM_003319.4:c.25999A>G (TTN) NP_003310.4:p.Lys8667Glu
NM_133378.4:c.45490A>G (TTN) NP_596869.4:p.Lys15164Glu
NM_133432.3:c.26374A>G (TTN) NP_597676.3:p.Lys8792Glu
NM_133437.4:c.26575A>G (TTN) NP_597681.4:p.Lys8859Glu
NR_038271.1:n.683-673T>C (TTN-AS1)
XM_011511729.1:c.52291A>G (TTN) XP_011510031.1:p.Lys17431Glu
XM_011511730.1:c.26185A>G (TTN) XP_011510032.1:p.Lys8729Glu
XM_011511731.1:c.26044A>G (TTN) XP_011510033.1:p.Lys8682Glu
XM_017004819.1:c.52087A>G (TTN) XP_016860308.1:p.Lys17363Glu
XM_017004820.1:c.47485A>G (TTN) XP_016860309.1:p.Lys15829Glu
XM_017004821.1:c.47482A>G (TTN) XP_016860310.1:p.Lys15828Glu
XM_017004822.1:c.44524A>G (TTN) XP_016860311.1:p.Lys14842Glu
XM_017004823.1:c.26140A>G (TTN) XP_016860312.1:p.Lys8714Glu
XM_024453094.1:c.47635A>G (TTN) XP_024308862.1:p.Lys15879Glu
XM_024453095.1:c.47632A>G (TTN) XP_024308863.1:p.Lys15878Glu
XM_024453096.1:c.47065A>G (TTN) XP_024308864.1:p.Lys15689Glu
XM_024453097.1:c.44407A>G (TTN) XP_024308865.1:p.Lys14803Glu
XM_024453098.1:c.44326A>G (TTN) XP_024308866.1:p.Lys14776Glu
XM_024453099.1:c.26089A>G (TTN) XP_024308867.1:p.Lys8697Glu
XM_024453100.1:c.15943A>G (TTN) XP_024308868.1:p.Lys5315Glu