Canonical Allele Identifier: CA349457116

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544402C>A , CM000664.2:g.178544402C>A GRCh38
NC_000002.11:g.179409129C>A , CM000664.1:g.179409129C>A GRCh37
NC_000002.10:g.179117375C>A NCBI36
NG_011618.3:g.291401G>T , LRG_391:g.291401G>T
NG_051363.1:g.26576C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.88123G>T (TTN) ENSP00000343764.6:p.Gly29375Ter
ENST00000342175.11:c.69208G>T (TTN) ENSP00000340554.6:p.Gly23070Ter
ENST00000359218.10:c.69007G>T (TTN) ENSP00000352154.5:p.Gly23003Ter
ENST00000342175.10:c.69208G>T (TTN) ENSP00000340554.6:p.Gly23070Ter
ENST00000342992.10:c.88123G>T (TTN) ENSP00000343764.6:p.Gly29375Ter
ENST00000359218.9:c.69007G>T (TTN) ENSP00000352154.5:p.Gly23003Ter
ENST00000460472.6:c.68632G>T (TTN) ENSP00000434586.1:p.Gly22878Ter
ENST00000589042.5:c.95827G>T (TTN) MANE Select ENSP00000467141.1:p.Gly31943Ter
ENST00000591111.5:c.90904G>T (TTN) ENSP00000465570.1:p.Gly30302Ter
ENST00000615779.4:c.90904G>T (TTN) ENSP00000483597.1:p.Gly30302Ter
NM_001256850.1:c.90904G>T (TTN) NP_001243779.1:p.Gly30302Ter
NM_001267550.2:c.95827G>T (TTN) MANE Select NP_001254479.2:p.Gly31943Ter
NM_003319.4:c.68632G>T (TTN) NP_003310.4:p.Gly22878Ter
NM_133378.4:c.88123G>T (TTN) NP_596869.4:p.Gly29375Ter
NM_133432.3:c.69007G>T (TTN) NP_597676.3:p.Gly23003Ter
NM_133437.4:c.69208G>T (TTN) NP_597681.4:p.Gly23070Ter
NR_038271.1:n.446+20766C>A (TTN-AS1)
NR_038272.1:n.2043+2041C>A (TTN-AS1)
XM_011511729.1:c.94924G>T (TTN) XP_011510031.1:p.Gly31642Ter
XM_011511730.1:c.68818G>T (TTN) XP_011510032.1:p.Gly22940Ter
XM_011511731.1:c.68677G>T (TTN) XP_011510033.1:p.Gly22893Ter
XM_017004819.1:c.94720G>T (TTN) XP_016860308.1:p.Gly31574Ter
XM_017004820.1:c.90118G>T (TTN) XP_016860309.1:p.Gly30040Ter
XM_017004821.1:c.90115G>T (TTN) XP_016860310.1:p.Gly30039Ter
XM_017004822.1:c.87157G>T (TTN) XP_016860311.1:p.Gly29053Ter
XM_017004823.1:c.68773G>T (TTN) XP_016860312.1:p.Gly22925Ter
XM_024453094.1:c.90268G>T (TTN) XP_024308862.1:p.Gly30090Ter
XM_024453095.1:c.90265G>T (TTN) XP_024308863.1:p.Gly30089Ter
XM_024453096.1:c.89698G>T (TTN) XP_024308864.1:p.Gly29900Ter
XM_024453097.1:c.87040G>T (TTN) XP_024308865.1:p.Gly29014Ter
XM_024453098.1:c.86959G>T (TTN) XP_024308866.1:p.Gly28987Ter
XM_024453099.1:c.68722G>T (TTN) XP_024308867.1:p.Gly22908Ter
XM_024453100.1:c.58576G>T (TTN) XP_024308868.1:p.Gly19526Ter