Canonical Allele Identifier: CA16617330

Linked Data

ClinVar Variation Id: 418978
dbSNP Id: rs1064793560

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178536160C>T , CM000664.2:g.178536160C>T GRCh38
NC_000002.11:g.179400887C>T , CM000664.1:g.179400887C>T GRCh37
NC_000002.10:g.179109133C>T NCBI36
NG_011618.3:g.299643G>A , LRG_391:g.299643G>A
NG_051363.1:g.18334C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.92883G>A (TTN) ENSP00000343764.6:p.Trp30961Ter
ENST00000342175.11:c.73968G>A (TTN) ENSP00000340554.6:p.Trp24656Ter
ENST00000359218.10:c.73767G>A (TTN) ENSP00000352154.5:p.Trp24589Ter
ENST00000342175.10:c.73968G>A (TTN) ENSP00000340554.6:p.Trp24656Ter
ENST00000342992.10:c.92883G>A (TTN) ENSP00000343764.6:p.Trp30961Ter
ENST00000359218.9:c.73767G>A (TTN) ENSP00000352154.5:p.Trp24589Ter
ENST00000460472.6:c.73392G>A (TTN) ENSP00000434586.1:p.Trp24464Ter
ENST00000589042.5:c.100587G>A (TTN) MANE Select ENSP00000467141.1:p.Trp33529Ter
ENST00000591111.5:c.95664G>A (TTN) ENSP00000465570.1:p.Trp31888Ter
ENST00000615779.4:c.95664G>A (TTN) ENSP00000483597.1:p.Trp31888Ter
NM_001256850.1:c.95664G>A (TTN) NP_001243779.1:p.Trp31888Ter
NM_001267550.2:c.100587G>A (TTN) MANE Select NP_001254479.2:p.Trp33529Ter
NM_003319.4:c.73392G>A (TTN) NP_003310.4:p.Trp24464Ter
NM_133378.4:c.92883G>A (TTN) NP_596869.4:p.Trp30961Ter
NM_133432.3:c.73767G>A (TTN) NP_597676.3:p.Trp24589Ter
NM_133437.4:c.73968G>A (TTN) NP_597681.4:p.Trp24656Ter
NR_038271.1:n.446+12524C>T (TTN-AS1)
NR_038272.1:n.316+332C>T (TTN-AS1)
XM_011511729.1:c.99684G>A (TTN) XP_011510031.1:p.Trp33228Ter
XM_011511730.1:c.73578G>A (TTN) XP_011510032.1:p.Trp24526Ter
XM_011511731.1:c.73437G>A (TTN) XP_011510033.1:p.Trp24479Ter
XM_017004819.1:c.99480G>A (TTN) XP_016860308.1:p.Trp33160Ter
XM_017004820.1:c.94878G>A (TTN) XP_016860309.1:p.Trp31626Ter
XM_017004821.1:c.94875G>A (TTN) XP_016860310.1:p.Trp31625Ter
XM_017004822.1:c.91917G>A (TTN) XP_016860311.1:p.Trp30639Ter
XM_017004823.1:c.73533G>A (TTN) XP_016860312.1:p.Trp24511Ter
XM_024453094.1:c.95028G>A (TTN) XP_024308862.1:p.Trp31676Ter
XM_024453095.1:c.95025G>A (TTN) XP_024308863.1:p.Trp31675Ter
XM_024453096.1:c.94458G>A (TTN) XP_024308864.1:p.Trp31486Ter
XM_024453097.1:c.91800G>A (TTN) XP_024308865.1:p.Trp30600Ter
XM_024453098.1:c.91719G>A (TTN) XP_024308866.1:p.Trp30573Ter
XM_024453099.1:c.73482G>A (TTN) XP_024308867.1:p.Trp24494Ter
XM_024453100.1:c.63336G>A (TTN) XP_024308868.1:p.Trp21112Ter