Canonical Allele Identifier: CA349407090

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530540A>T , CM000664.2:g.178530540A>T GRCh38
NC_000002.11:g.179395267A>T , CM000664.1:g.179395267A>T GRCh37
NC_000002.10:g.179103513A>T NCBI36
NG_011618.3:g.305263T>A , LRG_391:g.305263T>A
NG_051363.1:g.12714A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98371T>A (TTN) ENSP00000343764.6:p.Cys32791Ser
ENST00000342175.11:c.79456T>A (TTN) ENSP00000340554.6:p.Cys26486Ser
ENST00000359218.10:c.79255T>A (TTN) ENSP00000352154.5:p.Cys26419Ser
ENST00000342175.10:c.79456T>A (TTN) ENSP00000340554.6:p.Cys26486Ser
ENST00000342992.10:c.98371T>A (TTN) ENSP00000343764.6:p.Cys32791Ser
ENST00000359218.9:c.79255T>A (TTN) ENSP00000352154.5:p.Cys26419Ser
ENST00000460472.6:c.78880T>A (TTN) ENSP00000434586.1:p.Cys26294Ser
ENST00000589042.5:c.106075T>A (TTN) MANE Select ENSP00000467141.1:p.Cys35359Ser
ENST00000591111.5:c.101152T>A (TTN) ENSP00000465570.1:p.Cys33718Ser
ENST00000615779.4:c.101152T>A (TTN) ENSP00000483597.1:p.Cys33718Ser
NM_001256850.1:c.101152T>A (TTN) NP_001243779.1:p.Cys33718Ser
NM_001267550.2:c.106075T>A (TTN) MANE Select NP_001254479.2:p.Cys35359Ser
NM_003319.4:c.78880T>A (TTN) NP_003310.4:p.Cys26294Ser
NM_133378.4:c.98371T>A (TTN) NP_596869.4:p.Cys32791Ser
NM_133432.3:c.79255T>A (TTN) NP_597676.3:p.Cys26419Ser
NM_133437.4:c.79456T>A (TTN) NP_597681.4:p.Cys26486Ser
NR_038271.1:n.446+6904A>T (TTN-AS1)
NR_038272.1:n.220-5192A>T (TTN-AS1)
XM_011511729.1:c.105172T>A (TTN) XP_011510031.1:p.Cys35058Ser
XM_011511730.1:c.79066T>A (TTN) XP_011510032.1:p.Cys26356Ser
XM_011511731.1:c.78925T>A (TTN) XP_011510033.1:p.Cys26309Ser
XM_017004819.1:c.104968T>A (TTN) XP_016860308.1:p.Cys34990Ser
XM_017004820.1:c.100366T>A (TTN) XP_016860309.1:p.Cys33456Ser
XM_017004821.1:c.100363T>A (TTN) XP_016860310.1:p.Cys33455Ser
XM_017004822.1:c.97405T>A (TTN) XP_016860311.1:p.Cys32469Ser
XM_017004823.1:c.79021T>A (TTN) XP_016860312.1:p.Cys26341Ser
XM_024453094.1:c.100516T>A (TTN) XP_024308862.1:p.Cys33506Ser
XM_024453095.1:c.100513T>A (TTN) XP_024308863.1:p.Cys33505Ser
XM_024453096.1:c.99946T>A (TTN) XP_024308864.1:p.Cys33316Ser
XM_024453097.1:c.97288T>A (TTN) XP_024308865.1:p.Cys32430Ser
XM_024453098.1:c.97207T>A (TTN) XP_024308866.1:p.Cys32403Ser
XM_024453099.1:c.78970T>A (TTN) XP_024308867.1:p.Cys26324Ser
XM_024453100.1:c.68824T>A (TTN) XP_024308868.1:p.Cys22942Ser