Canonical Allele Identifier: CA349405615

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530110T>A , CM000664.2:g.178530110T>A GRCh38
NC_000002.11:g.179394837T>A , CM000664.1:g.179394837T>A GRCh37
NC_000002.10:g.179103083T>A NCBI36
NG_011618.3:g.305693A>T , LRG_391:g.305693A>T
NG_051363.1:g.12284T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98677A>T (TTN) ENSP00000343764.6:p.Thr32893Ser
ENST00000342175.11:c.79762A>T (TTN) ENSP00000340554.6:p.Thr26588Ser
ENST00000359218.10:c.79561A>T (TTN) ENSP00000352154.5:p.Thr26521Ser
ENST00000342175.10:c.79762A>T (TTN) ENSP00000340554.6:p.Thr26588Ser
ENST00000342992.10:c.98677A>T (TTN) ENSP00000343764.6:p.Thr32893Ser
ENST00000359218.9:c.79561A>T (TTN) ENSP00000352154.5:p.Thr26521Ser
ENST00000460472.6:c.79186A>T (TTN) ENSP00000434586.1:p.Thr26396Ser
ENST00000589042.5:c.106381A>T (TTN) MANE Select ENSP00000467141.1:p.Thr35461Ser
ENST00000591111.5:c.101458A>T (TTN) ENSP00000465570.1:p.Thr33820Ser
ENST00000615779.4:c.101458A>T (TTN) ENSP00000483597.1:p.Thr33820Ser
NM_001256850.1:c.101458A>T (TTN) NP_001243779.1:p.Thr33820Ser
NM_001267550.2:c.106381A>T (TTN) MANE Select NP_001254479.2:p.Thr35461Ser
NM_003319.4:c.79186A>T (TTN) NP_003310.4:p.Thr26396Ser
NM_133378.4:c.98677A>T (TTN) NP_596869.4:p.Thr32893Ser
NM_133432.3:c.79561A>T (TTN) NP_597676.3:p.Thr26521Ser
NM_133437.4:c.79762A>T (TTN) NP_597681.4:p.Thr26588Ser
NR_038271.1:n.446+6474T>A (TTN-AS1)
NR_038272.1:n.220-5622T>A (TTN-AS1)
XM_011511729.1:c.105478A>T (TTN) XP_011510031.1:p.Thr35160Ser
XM_011511730.1:c.79372A>T (TTN) XP_011510032.1:p.Thr26458Ser
XM_011511731.1:c.79231A>T (TTN) XP_011510033.1:p.Thr26411Ser
XM_017004819.1:c.105274A>T (TTN) XP_016860308.1:p.Thr35092Ser
XM_017004820.1:c.100672A>T (TTN) XP_016860309.1:p.Thr33558Ser
XM_017004821.1:c.100669A>T (TTN) XP_016860310.1:p.Thr33557Ser
XM_017004822.1:c.97711A>T (TTN) XP_016860311.1:p.Thr32571Ser
XM_017004823.1:c.79327A>T (TTN) XP_016860312.1:p.Thr26443Ser
XM_024453094.1:c.100822A>T (TTN) XP_024308862.1:p.Thr33608Ser
XM_024453095.1:c.100819A>T (TTN) XP_024308863.1:p.Thr33607Ser
XM_024453096.1:c.100252A>T (TTN) XP_024308864.1:p.Thr33418Ser
XM_024453097.1:c.97594A>T (TTN) XP_024308865.1:p.Thr32532Ser
XM_024453098.1:c.97513A>T (TTN) XP_024308866.1:p.Thr32505Ser
XM_024453099.1:c.79276A>T (TTN) XP_024308867.1:p.Thr26426Ser
XM_024453100.1:c.69130A>T (TTN) XP_024308868.1:p.Thr23044Ser