Canonical Allele Identifier: CA349457890

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544456T>A , CM000664.2:g.178544456T>A GRCh38
NC_000002.11:g.179409183T>A , CM000664.1:g.179409183T>A GRCh37
NC_000002.10:g.179117429T>A NCBI36
NG_011618.3:g.291347A>T , LRG_391:g.291347A>T
NG_051363.1:g.26630T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.88069A>T (TTN) ENSP00000343764.6:p.Ser29357Cys
ENST00000342175.11:c.69154A>T (TTN) ENSP00000340554.6:p.Ser23052Cys
ENST00000359218.10:c.68953A>T (TTN) ENSP00000352154.5:p.Ser22985Cys
ENST00000342175.10:c.69154A>T (TTN) ENSP00000340554.6:p.Ser23052Cys
ENST00000342992.10:c.88069A>T (TTN) ENSP00000343764.6:p.Ser29357Cys
ENST00000359218.9:c.68953A>T (TTN) ENSP00000352154.5:p.Ser22985Cys
ENST00000460472.6:c.68578A>T (TTN) ENSP00000434586.1:p.Ser22860Cys
ENST00000589042.5:c.95773A>T (TTN) MANE Select ENSP00000467141.1:p.Ser31925Cys
ENST00000591111.5:c.90850A>T (TTN) ENSP00000465570.1:p.Ser30284Cys
ENST00000615779.4:c.90850A>T (TTN) ENSP00000483597.1:p.Ser30284Cys
NM_001256850.1:c.90850A>T (TTN) NP_001243779.1:p.Ser30284Cys
NM_001267550.2:c.95773A>T (TTN) MANE Select NP_001254479.2:p.Ser31925Cys
NM_003319.4:c.68578A>T (TTN) NP_003310.4:p.Ser22860Cys
NM_133378.4:c.88069A>T (TTN) NP_596869.4:p.Ser29357Cys
NM_133432.3:c.68953A>T (TTN) NP_597676.3:p.Ser22985Cys
NM_133437.4:c.69154A>T (TTN) NP_597681.4:p.Ser23052Cys
NR_038271.1:n.446+20820T>A (TTN-AS1)
NR_038272.1:n.2043+2095T>A (TTN-AS1)
XM_011511729.1:c.94870A>T (TTN) XP_011510031.1:p.Ser31624Cys
XM_011511730.1:c.68764A>T (TTN) XP_011510032.1:p.Ser22922Cys
XM_011511731.1:c.68623A>T (TTN) XP_011510033.1:p.Ser22875Cys
XM_017004819.1:c.94666A>T (TTN) XP_016860308.1:p.Ser31556Cys
XM_017004820.1:c.90064A>T (TTN) XP_016860309.1:p.Ser30022Cys
XM_017004821.1:c.90061A>T (TTN) XP_016860310.1:p.Ser30021Cys
XM_017004822.1:c.87103A>T (TTN) XP_016860311.1:p.Ser29035Cys
XM_017004823.1:c.68719A>T (TTN) XP_016860312.1:p.Ser22907Cys
XM_024453094.1:c.90214A>T (TTN) XP_024308862.1:p.Ser30072Cys
XM_024453095.1:c.90211A>T (TTN) XP_024308863.1:p.Ser30071Cys
XM_024453096.1:c.89644A>T (TTN) XP_024308864.1:p.Ser29882Cys
XM_024453097.1:c.86986A>T (TTN) XP_024308865.1:p.Ser28996Cys
XM_024453098.1:c.86905A>T (TTN) XP_024308866.1:p.Ser28969Cys
XM_024453099.1:c.68668A>T (TTN) XP_024308867.1:p.Ser22890Cys
XM_024453100.1:c.58522A>T (TTN) XP_024308868.1:p.Ser19508Cys