Canonical Allele Identifier: CA349411761

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532191T>A , CM000664.2:g.178532191T>A GRCh38
NC_000002.11:g.179396918T>A , CM000664.1:g.179396918T>A GRCh37
NC_000002.10:g.179105164T>A NCBI36
NG_011618.3:g.303612A>T , LRG_391:g.303612A>T
NG_051363.1:g.14365T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96720A>T (TTN) ENSP00000343764.6:p.Glu32240Asp
ENST00000342175.11:c.77805A>T (TTN) ENSP00000340554.6:p.Glu25935Asp
ENST00000359218.10:c.77604A>T (TTN) ENSP00000352154.5:p.Glu25868Asp
ENST00000342175.10:c.77805A>T (TTN) ENSP00000340554.6:p.Glu25935Asp
ENST00000342992.10:c.96720A>T (TTN) ENSP00000343764.6:p.Glu32240Asp
ENST00000359218.9:c.77604A>T (TTN) ENSP00000352154.5:p.Glu25868Asp
ENST00000460472.6:c.77229A>T (TTN) ENSP00000434586.1:p.Glu25743Asp
ENST00000589042.5:c.104424A>T (TTN) MANE Select ENSP00000467141.1:p.Glu34808Asp
ENST00000591111.5:c.99501A>T (TTN) ENSP00000465570.1:p.Glu33167Asp
ENST00000615779.4:c.99501A>T (TTN) ENSP00000483597.1:p.Glu33167Asp
NM_001256850.1:c.99501A>T (TTN) NP_001243779.1:p.Glu33167Asp
NM_001267550.2:c.104424A>T (TTN) MANE Select NP_001254479.2:p.Glu34808Asp
NM_003319.4:c.77229A>T (TTN) NP_003310.4:p.Glu25743Asp
NM_133378.4:c.96720A>T (TTN) NP_596869.4:p.Glu32240Asp
NM_133432.3:c.77604A>T (TTN) NP_597676.3:p.Glu25868Asp
NM_133437.4:c.77805A>T (TTN) NP_597681.4:p.Glu25935Asp
NR_038271.1:n.446+8555T>A (TTN-AS1)
NR_038272.1:n.220-3541T>A (TTN-AS1)
XM_011511729.1:c.103521A>T (TTN) XP_011510031.1:p.Glu34507Asp
XM_011511730.1:c.77415A>T (TTN) XP_011510032.1:p.Glu25805Asp
XM_011511731.1:c.77274A>T (TTN) XP_011510033.1:p.Glu25758Asp
XM_017004819.1:c.103317A>T (TTN) XP_016860308.1:p.Glu34439Asp
XM_017004820.1:c.98715A>T (TTN) XP_016860309.1:p.Glu32905Asp
XM_017004821.1:c.98712A>T (TTN) XP_016860310.1:p.Glu32904Asp
XM_017004822.1:c.95754A>T (TTN) XP_016860311.1:p.Glu31918Asp
XM_017004823.1:c.77370A>T (TTN) XP_016860312.1:p.Glu25790Asp
XM_024453094.1:c.98865A>T (TTN) XP_024308862.1:p.Glu32955Asp
XM_024453095.1:c.98862A>T (TTN) XP_024308863.1:p.Glu32954Asp
XM_024453096.1:c.98295A>T (TTN) XP_024308864.1:p.Glu32765Asp
XM_024453097.1:c.95637A>T (TTN) XP_024308865.1:p.Glu31879Asp
XM_024453098.1:c.95556A>T (TTN) XP_024308866.1:p.Glu31852Asp
XM_024453099.1:c.77319A>T (TTN) XP_024308867.1:p.Glu25773Asp
XM_024453100.1:c.67173A>T (TTN) XP_024308868.1:p.Glu22391Asp