Canonical Allele Identifier: CA1985592

Linked Data

ClinVar Variation Id: 229566
dbSNP Id: rs761105256

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178533101T>A , CM000664.2:g.178533101T>A GRCh38
NC_000002.11:g.179397828T>A , CM000664.1:g.179397828T>A GRCh37
NC_000002.10:g.179106074T>A NCBI36
NG_011618.3:g.302702A>T , LRG_391:g.302702A>T
NG_051363.1:g.15275T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.95810A>T (TTN) ENSP00000343764.6:p.Glu31937Val
ENST00000342175.11:c.76895A>T (TTN) ENSP00000340554.6:p.Glu25632Val
ENST00000359218.10:c.76694A>T (TTN) ENSP00000352154.5:p.Glu25565Val
ENST00000342175.10:c.76895A>T (TTN) ENSP00000340554.6:p.Glu25632Val
ENST00000342992.10:c.95810A>T (TTN) ENSP00000343764.6:p.Glu31937Val
ENST00000359218.9:c.76694A>T (TTN) ENSP00000352154.5:p.Glu25565Val
ENST00000460472.6:c.76319A>T (TTN) ENSP00000434586.1:p.Glu25440Val
ENST00000589042.5:c.103514A>T (TTN) MANE Select ENSP00000467141.1:p.Glu34505Val
ENST00000591111.5:c.98591A>T (TTN) ENSP00000465570.1:p.Glu32864Val
ENST00000615779.4:c.98591A>T (TTN) ENSP00000483597.1:p.Glu32864Val
NM_001256850.1:c.98591A>T (TTN) NP_001243779.1:p.Glu32864Val
NM_001267550.2:c.103514A>T (TTN) MANE Select NP_001254479.2:p.Glu34505Val
NM_003319.4:c.76319A>T (TTN) NP_003310.4:p.Glu25440Val
NM_133378.4:c.95810A>T (TTN) NP_596869.4:p.Glu31937Val
NM_133432.3:c.76694A>T (TTN) NP_597676.3:p.Glu25565Val
NM_133437.4:c.76895A>T (TTN) NP_597681.4:p.Glu25632Val
NR_038271.1:n.446+9465T>A (TTN-AS1)
NR_038272.1:n.220-2631T>A (TTN-AS1)
XM_011511729.1:c.102611A>T (TTN) XP_011510031.1:p.Glu34204Val
XM_011511730.1:c.76505A>T (TTN) XP_011510032.1:p.Glu25502Val
XM_011511731.1:c.76364A>T (TTN) XP_011510033.1:p.Glu25455Val
XM_017004819.1:c.102407A>T (TTN) XP_016860308.1:p.Glu34136Val
XM_017004820.1:c.97805A>T (TTN) XP_016860309.1:p.Glu32602Val
XM_017004821.1:c.97802A>T (TTN) XP_016860310.1:p.Glu32601Val
XM_017004822.1:c.94844A>T (TTN) XP_016860311.1:p.Glu31615Val
XM_017004823.1:c.76460A>T (TTN) XP_016860312.1:p.Glu25487Val
XM_024453094.1:c.97955A>T (TTN) XP_024308862.1:p.Glu32652Val
XM_024453095.1:c.97952A>T (TTN) XP_024308863.1:p.Glu32651Val
XM_024453096.1:c.97385A>T (TTN) XP_024308864.1:p.Glu32462Val
XM_024453097.1:c.94727A>T (TTN) XP_024308865.1:p.Glu31576Val
XM_024453098.1:c.94646A>T (TTN) XP_024308866.1:p.Glu31549Val
XM_024453099.1:c.76409A>T (TTN) XP_024308867.1:p.Glu25470Val
XM_024453100.1:c.66263A>T (TTN) XP_024308868.1:p.Glu22088Val