Canonical Allele Identifier: CA349405286

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530057T>A , CM000664.2:g.178530057T>A GRCh38
NC_000002.11:g.179394784T>A , CM000664.1:g.179394784T>A GRCh37
NC_000002.10:g.179103030T>A NCBI36
NG_011618.3:g.305746A>T , LRG_391:g.305746A>T
NG_051363.1:g.12231T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98730A>T (TTN) ENSP00000343764.6:p.Glu32910Asp
ENST00000342175.11:c.79815A>T (TTN) ENSP00000340554.6:p.Glu26605Asp
ENST00000359218.10:c.79614A>T (TTN) ENSP00000352154.5:p.Glu26538Asp
ENST00000342175.10:c.79815A>T (TTN) ENSP00000340554.6:p.Glu26605Asp
ENST00000342992.10:c.98730A>T (TTN) ENSP00000343764.6:p.Glu32910Asp
ENST00000359218.9:c.79614A>T (TTN) ENSP00000352154.5:p.Glu26538Asp
ENST00000460472.6:c.79239A>T (TTN) ENSP00000434586.1:p.Glu26413Asp
ENST00000589042.5:c.106434A>T (TTN) MANE Select ENSP00000467141.1:p.Glu35478Asp
ENST00000591111.5:c.101511A>T (TTN) ENSP00000465570.1:p.Glu33837Asp
ENST00000615779.4:c.101511A>T (TTN) ENSP00000483597.1:p.Glu33837Asp
NM_001256850.1:c.101511A>T (TTN) NP_001243779.1:p.Glu33837Asp
NM_001267550.2:c.106434A>T (TTN) MANE Select NP_001254479.2:p.Glu35478Asp
NM_003319.4:c.79239A>T (TTN) NP_003310.4:p.Glu26413Asp
NM_133378.4:c.98730A>T (TTN) NP_596869.4:p.Glu32910Asp
NM_133432.3:c.79614A>T (TTN) NP_597676.3:p.Glu26538Asp
NM_133437.4:c.79815A>T (TTN) NP_597681.4:p.Glu26605Asp
NR_038271.1:n.446+6421T>A (TTN-AS1)
NR_038272.1:n.220-5675T>A (TTN-AS1)
XM_011511729.1:c.105531A>T (TTN) XP_011510031.1:p.Glu35177Asp
XM_011511730.1:c.79425A>T (TTN) XP_011510032.1:p.Glu26475Asp
XM_011511731.1:c.79284A>T (TTN) XP_011510033.1:p.Glu26428Asp
XM_017004819.1:c.105327A>T (TTN) XP_016860308.1:p.Glu35109Asp
XM_017004820.1:c.100725A>T (TTN) XP_016860309.1:p.Glu33575Asp
XM_017004821.1:c.100722A>T (TTN) XP_016860310.1:p.Glu33574Asp
XM_017004822.1:c.97764A>T (TTN) XP_016860311.1:p.Glu32588Asp
XM_017004823.1:c.79380A>T (TTN) XP_016860312.1:p.Glu26460Asp
XM_024453094.1:c.100875A>T (TTN) XP_024308862.1:p.Glu33625Asp
XM_024453095.1:c.100872A>T (TTN) XP_024308863.1:p.Glu33624Asp
XM_024453096.1:c.100305A>T (TTN) XP_024308864.1:p.Glu33435Asp
XM_024453097.1:c.97647A>T (TTN) XP_024308865.1:p.Glu32549Asp
XM_024453098.1:c.97566A>T (TTN) XP_024308866.1:p.Glu32522Asp
XM_024453099.1:c.79329A>T (TTN) XP_024308867.1:p.Glu26443Asp
XM_024453100.1:c.69183A>T (TTN) XP_024308868.1:p.Glu23061Asp