Canonical Allele Identifier: CA349567507

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.45490A>T (TTN) ENSP00000343764.6:p.Lys15164Ter
ENST00000342175.11:c.26575A>T (TTN) ENSP00000340554.6:p.Lys8859Ter
ENST00000359218.10:c.26374A>T (TTN) ENSP00000352154.5:p.Lys8792Ter
ENST00000342175.10:c.26575A>T (TTN) ENSP00000340554.6:p.Lys8859Ter
ENST00000342992.10:c.45490A>T (TTN) ENSP00000343764.6:p.Lys15164Ter
ENST00000359218.9:c.26374A>T (TTN) ENSP00000352154.5:p.Lys8792Ter
ENST00000460472.6:c.25999A>T (TTN) ENSP00000434586.1:p.Lys8667Ter
ENST00000589042.5:c.53194A>T (TTN) MANE Select ENSP00000467141.1:p.Lys17732Ter
ENST00000591111.5:c.48271A>T (TTN) ENSP00000465570.1:p.Lys16091Ter
ENST00000615779.4:c.48271A>T (TTN) ENSP00000483597.1:p.Lys16091Ter
NM_001256850.1:c.48271A>T (TTN) NP_001243779.1:p.Lys16091Ter
NM_001267550.2:c.53194A>T (TTN) MANE Select NP_001254479.2:p.Lys17732Ter
NM_003319.4:c.25999A>T (TTN) NP_003310.4:p.Lys8667Ter
NM_133378.4:c.45490A>T (TTN) NP_596869.4:p.Lys15164Ter
NM_133432.3:c.26374A>T (TTN) NP_597676.3:p.Lys8792Ter
NM_133437.4:c.26575A>T (TTN) NP_597681.4:p.Lys8859Ter
NR_038271.1:n.683-673T>A (TTN-AS1)
XM_011511729.1:c.52291A>T (TTN) XP_011510031.1:p.Lys17431Ter
XM_011511730.1:c.26185A>T (TTN) XP_011510032.1:p.Lys8729Ter
XM_011511731.1:c.26044A>T (TTN) XP_011510033.1:p.Lys8682Ter
XM_017004819.1:c.52087A>T (TTN) XP_016860308.1:p.Lys17363Ter
XM_017004820.1:c.47485A>T (TTN) XP_016860309.1:p.Lys15829Ter
XM_017004821.1:c.47482A>T (TTN) XP_016860310.1:p.Lys15828Ter
XM_017004822.1:c.44524A>T (TTN) XP_016860311.1:p.Lys14842Ter
XM_017004823.1:c.26140A>T (TTN) XP_016860312.1:p.Lys8714Ter
XM_024453094.1:c.47635A>T (TTN) XP_024308862.1:p.Lys15879Ter
XM_024453095.1:c.47632A>T (TTN) XP_024308863.1:p.Lys15878Ter
XM_024453096.1:c.47065A>T (TTN) XP_024308864.1:p.Lys15689Ter
XM_024453097.1:c.44407A>T (TTN) XP_024308865.1:p.Lys14803Ter
XM_024453098.1:c.44326A>T (TTN) XP_024308866.1:p.Lys14776Ter
XM_024453099.1:c.26089A>T (TTN) XP_024308867.1:p.Lys8697Ter
XM_024453100.1:c.15943A>T (TTN) XP_024308868.1:p.Lys5315Ter