Canonical Allele Identifier: CA349658729

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178574899T>A , CM000664.2:g.178574899T>A GRCh38
NC_000002.11:g.179439626T>A , CM000664.1:g.179439626T>A GRCh37
NC_000002.10:g.179147872T>A NCBI36
NG_011618.3:g.260904A>T , LRG_391:g.260904A>T
NG_051363.1:g.57073T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.63529A>T (TTN) ENSP00000343764.6:p.Thr21177Ser
ENST00000342175.11:c.44614A>T (TTN) ENSP00000340554.6:p.Thr14872Ser
ENST00000359218.10:c.44413A>T (TTN) ENSP00000352154.5:p.Thr14805Ser
ENST00000342175.10:c.44614A>T (TTN) ENSP00000340554.6:p.Thr14872Ser
ENST00000342992.10:c.63529A>T (TTN) ENSP00000343764.6:p.Thr21177Ser
ENST00000359218.9:c.44413A>T (TTN) ENSP00000352154.5:p.Thr14805Ser
ENST00000460472.6:c.44038A>T (TTN) ENSP00000434586.1:p.Thr14680Ser
ENST00000589042.5:c.71233A>T (TTN) MANE Select ENSP00000467141.1:p.Thr23745Ser
ENST00000591111.5:c.66310A>T (TTN) ENSP00000465570.1:p.Thr22104Ser
ENST00000615779.4:c.66310A>T (TTN) ENSP00000483597.1:p.Thr22104Ser
NM_001256850.1:c.66310A>T (TTN) NP_001243779.1:p.Thr22104Ser
NM_001267550.2:c.71233A>T (TTN) MANE Select NP_001254479.2:p.Thr23745Ser
NM_003319.4:c.44038A>T (TTN) NP_003310.4:p.Thr14680Ser
NM_133378.4:c.63529A>T (TTN) NP_596869.4:p.Thr21177Ser
NM_133432.3:c.44413A>T (TTN) NP_597676.3:p.Thr14805Ser
NM_133437.4:c.44614A>T (TTN) NP_597681.4:p.Thr14872Ser
NR_038271.1:n.596+3450T>A (TTN-AS1)
NR_038272.1:n.2044-7673T>A (TTN-AS1)
XM_011511729.1:c.70330A>T (TTN) XP_011510031.1:p.Thr23444Ser
XM_011511730.1:c.44224A>T (TTN) XP_011510032.1:p.Thr14742Ser
XM_011511731.1:c.44083A>T (TTN) XP_011510033.1:p.Thr14695Ser
XM_017004819.1:c.70126A>T (TTN) XP_016860308.1:p.Thr23376Ser
XM_017004820.1:c.65524A>T (TTN) XP_016860309.1:p.Thr21842Ser
XM_017004821.1:c.65521A>T (TTN) XP_016860310.1:p.Thr21841Ser
XM_017004822.1:c.62563A>T (TTN) XP_016860311.1:p.Thr20855Ser
XM_017004823.1:c.44179A>T (TTN) XP_016860312.1:p.Thr14727Ser
XM_024453094.1:c.65674A>T (TTN) XP_024308862.1:p.Thr21892Ser
XM_024453095.1:c.65671A>T (TTN) XP_024308863.1:p.Thr21891Ser
XM_024453096.1:c.65104A>T (TTN) XP_024308864.1:p.Thr21702Ser
XM_024453097.1:c.62446A>T (TTN) XP_024308865.1:p.Thr20816Ser
XM_024453098.1:c.62365A>T (TTN) XP_024308866.1:p.Thr20789Ser
XM_024453099.1:c.44128A>T (TTN) XP_024308867.1:p.Thr14710Ser
XM_024453100.1:c.33982A>T (TTN) XP_024308868.1:p.Thr11328Ser