Canonical Allele Identifier: CA349516699

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178553193T>A , CM000664.2:g.178553193T>A GRCh38
NC_000002.11:g.179417920T>A , CM000664.1:g.179417920T>A GRCh37
NC_000002.10:g.179126166T>A NCBI36
NG_011618.3:g.282610A>T , LRG_391:g.282610A>T
NG_051363.1:g.35367T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.82003A>T (TTN) ENSP00000343764.6:p.Thr27335Ser
ENST00000342175.11:c.63088A>T (TTN) ENSP00000340554.6:p.Thr21030Ser
ENST00000359218.10:c.62887A>T (TTN) ENSP00000352154.5:p.Thr20963Ser
ENST00000342175.10:c.63088A>T (TTN) ENSP00000340554.6:p.Thr21030Ser
ENST00000342992.10:c.82003A>T (TTN) ENSP00000343764.6:p.Thr27335Ser
ENST00000359218.9:c.62887A>T (TTN) ENSP00000352154.5:p.Thr20963Ser
ENST00000460472.6:c.62512A>T (TTN) ENSP00000434586.1:p.Thr20838Ser
ENST00000589042.5:c.89707A>T (TTN) MANE Select ENSP00000467141.1:p.Thr29903Ser
ENST00000591111.5:c.84784A>T (TTN) ENSP00000465570.1:p.Thr28262Ser
ENST00000615779.4:c.84784A>T (TTN) ENSP00000483597.1:p.Thr28262Ser
NM_001256850.1:c.84784A>T (TTN) NP_001243779.1:p.Thr28262Ser
NM_001267550.2:c.89707A>T (TTN) MANE Select NP_001254479.2:p.Thr29903Ser
NM_003319.4:c.62512A>T (TTN) NP_003310.4:p.Thr20838Ser
NM_133378.4:c.82003A>T (TTN) NP_596869.4:p.Thr27335Ser
NM_133432.3:c.62887A>T (TTN) NP_597676.3:p.Thr20963Ser
NM_133437.4:c.63088A>T (TTN) NP_597681.4:p.Thr21030Ser
NR_038271.1:n.447-18107T>A (TTN-AS1)
NR_038272.1:n.2043+10832T>A (TTN-AS1)
XM_011511729.1:c.88804A>T (TTN) XP_011510031.1:p.Thr29602Ser
XM_011511730.1:c.62698A>T (TTN) XP_011510032.1:p.Thr20900Ser
XM_011511731.1:c.62557A>T (TTN) XP_011510033.1:p.Thr20853Ser
XM_017004819.1:c.88600A>T (TTN) XP_016860308.1:p.Thr29534Ser
XM_017004820.1:c.83998A>T (TTN) XP_016860309.1:p.Thr28000Ser
XM_017004821.1:c.83995A>T (TTN) XP_016860310.1:p.Thr27999Ser
XM_017004822.1:c.81037A>T (TTN) XP_016860311.1:p.Thr27013Ser
XM_017004823.1:c.62653A>T (TTN) XP_016860312.1:p.Thr20885Ser
XM_024453094.1:c.84148A>T (TTN) XP_024308862.1:p.Thr28050Ser
XM_024453095.1:c.84145A>T (TTN) XP_024308863.1:p.Thr28049Ser
XM_024453096.1:c.83578A>T (TTN) XP_024308864.1:p.Thr27860Ser
XM_024453097.1:c.80920A>T (TTN) XP_024308865.1:p.Thr26974Ser
XM_024453098.1:c.80839A>T (TTN) XP_024308866.1:p.Thr26947Ser
XM_024453099.1:c.62602A>T (TTN) XP_024308867.1:p.Thr20868Ser
XM_024453100.1:c.52456A>T (TTN) XP_024308868.1:p.Thr17486Ser