Canonical Allele Identifier: CA349450299

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543843T>A , CM000664.2:g.178543843T>A GRCh38
NC_000002.11:g.179408570T>A , CM000664.1:g.179408570T>A GRCh37
NC_000002.10:g.179116816T>A NCBI36
NG_011618.3:g.291960A>T , LRG_391:g.291960A>T
NG_051363.1:g.26017T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88597A>T (TTN) ENSP00000343764.6:p.Lys29533Ter
ENST00000342175.11:c.69682A>T (TTN) ENSP00000340554.6:p.Lys23228Ter
ENST00000359218.10:c.69481A>T (TTN) ENSP00000352154.5:p.Lys23161Ter
ENST00000342175.10:c.69682A>T (TTN) ENSP00000340554.6:p.Lys23228Ter
ENST00000342992.10:c.88597A>T (TTN) ENSP00000343764.6:p.Lys29533Ter
ENST00000359218.9:c.69481A>T (TTN) ENSP00000352154.5:p.Lys23161Ter
ENST00000460472.6:c.69106A>T (TTN) ENSP00000434586.1:p.Lys23036Ter
ENST00000589042.5:c.96301A>T (TTN) MANE Select ENSP00000467141.1:p.Lys32101Ter
ENST00000591111.5:c.91378A>T (TTN) ENSP00000465570.1:p.Lys30460Ter
ENST00000615779.4:c.91378A>T (TTN) ENSP00000483597.1:p.Lys30460Ter
NM_001256850.1:c.91378A>T (TTN) NP_001243779.1:p.Lys30460Ter
NM_001267550.2:c.96301A>T (TTN) MANE Select NP_001254479.2:p.Lys32101Ter
NM_003319.4:c.69106A>T (TTN) NP_003310.4:p.Lys23036Ter
NM_133378.4:c.88597A>T (TTN) NP_596869.4:p.Lys29533Ter
NM_133432.3:c.69481A>T (TTN) NP_597676.3:p.Lys23161Ter
NM_133437.4:c.69682A>T (TTN) NP_597681.4:p.Lys23228Ter
NR_038271.1:n.446+20207T>A (TTN-AS1)
NR_038272.1:n.2043+1482T>A (TTN-AS1)
XM_011511729.1:c.95398A>T (TTN) XP_011510031.1:p.Lys31800Ter
XM_011511730.1:c.69292A>T (TTN) XP_011510032.1:p.Lys23098Ter
XM_011511731.1:c.69151A>T (TTN) XP_011510033.1:p.Lys23051Ter
XM_017004819.1:c.95194A>T (TTN) XP_016860308.1:p.Lys31732Ter
XM_017004820.1:c.90592A>T (TTN) XP_016860309.1:p.Lys30198Ter
XM_017004821.1:c.90589A>T (TTN) XP_016860310.1:p.Lys30197Ter
XM_017004822.1:c.87631A>T (TTN) XP_016860311.1:p.Lys29211Ter
XM_017004823.1:c.69247A>T (TTN) XP_016860312.1:p.Lys23083Ter
XM_024453094.1:c.90742A>T (TTN) XP_024308862.1:p.Lys30248Ter
XM_024453095.1:c.90739A>T (TTN) XP_024308863.1:p.Lys30247Ter
XM_024453096.1:c.90172A>T (TTN) XP_024308864.1:p.Lys30058Ter
XM_024453097.1:c.87514A>T (TTN) XP_024308865.1:p.Lys29172Ter
XM_024453098.1:c.87433A>T (TTN) XP_024308866.1:p.Lys29145Ter
XM_024453099.1:c.69196A>T (TTN) XP_024308867.1:p.Lys23066Ter
XM_024453100.1:c.59050A>T (TTN) XP_024308868.1:p.Lys19684Ter