Canonical Allele Identifier: CA349457254

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544414T>A , CM000664.2:g.178544414T>A GRCh38
NC_000002.11:g.179409141T>A , CM000664.1:g.179409141T>A GRCh37
NC_000002.10:g.179117387T>A NCBI36
NG_011618.3:g.291389A>T , LRG_391:g.291389A>T
NG_051363.1:g.26588T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88111A>T (TTN) ENSP00000343764.6:p.Thr29371Ser
ENST00000342175.11:c.69196A>T (TTN) ENSP00000340554.6:p.Thr23066Ser
ENST00000359218.10:c.68995A>T (TTN) ENSP00000352154.5:p.Thr22999Ser
ENST00000342175.10:c.69196A>T (TTN) ENSP00000340554.6:p.Thr23066Ser
ENST00000342992.10:c.88111A>T (TTN) ENSP00000343764.6:p.Thr29371Ser
ENST00000359218.9:c.68995A>T (TTN) ENSP00000352154.5:p.Thr22999Ser
ENST00000460472.6:c.68620A>T (TTN) ENSP00000434586.1:p.Thr22874Ser
ENST00000589042.5:c.95815A>T (TTN) MANE Select ENSP00000467141.1:p.Thr31939Ser
ENST00000591111.5:c.90892A>T (TTN) ENSP00000465570.1:p.Thr30298Ser
ENST00000615779.4:c.90892A>T (TTN) ENSP00000483597.1:p.Thr30298Ser
NM_001256850.1:c.90892A>T (TTN) NP_001243779.1:p.Thr30298Ser
NM_001267550.2:c.95815A>T (TTN) MANE Select NP_001254479.2:p.Thr31939Ser
NM_003319.4:c.68620A>T (TTN) NP_003310.4:p.Thr22874Ser
NM_133378.4:c.88111A>T (TTN) NP_596869.4:p.Thr29371Ser
NM_133432.3:c.68995A>T (TTN) NP_597676.3:p.Thr22999Ser
NM_133437.4:c.69196A>T (TTN) NP_597681.4:p.Thr23066Ser
NR_038271.1:n.446+20778T>A (TTN-AS1)
NR_038272.1:n.2043+2053T>A (TTN-AS1)
XM_011511729.1:c.94912A>T (TTN) XP_011510031.1:p.Thr31638Ser
XM_011511730.1:c.68806A>T (TTN) XP_011510032.1:p.Thr22936Ser
XM_011511731.1:c.68665A>T (TTN) XP_011510033.1:p.Thr22889Ser
XM_017004819.1:c.94708A>T (TTN) XP_016860308.1:p.Thr31570Ser
XM_017004820.1:c.90106A>T (TTN) XP_016860309.1:p.Thr30036Ser
XM_017004821.1:c.90103A>T (TTN) XP_016860310.1:p.Thr30035Ser
XM_017004822.1:c.87145A>T (TTN) XP_016860311.1:p.Thr29049Ser
XM_017004823.1:c.68761A>T (TTN) XP_016860312.1:p.Thr22921Ser
XM_024453094.1:c.90256A>T (TTN) XP_024308862.1:p.Thr30086Ser
XM_024453095.1:c.90253A>T (TTN) XP_024308863.1:p.Thr30085Ser
XM_024453096.1:c.89686A>T (TTN) XP_024308864.1:p.Thr29896Ser
XM_024453097.1:c.87028A>T (TTN) XP_024308865.1:p.Thr29010Ser
XM_024453098.1:c.86947A>T (TTN) XP_024308866.1:p.Thr28983Ser
XM_024453099.1:c.68710A>T (TTN) XP_024308867.1:p.Thr22904Ser
XM_024453100.1:c.58564A>T (TTN) XP_024308868.1:p.Thr19522Ser