Canonical Allele Identifier: CA60959410
Community Standard Title: NM_001267550.2(TTN):c.102191C>T (p.Ala34064Val)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178534424G>A , CM000664.2:g.178534424G>A GRCh38
NC_000002.11:g.179399151G>A , CM000664.1:g.179399151G>A GRCh37
NC_000002.10:g.179107397G>A NCBI36
NG_011618.3:g.301379C>T , LRG_391:g.301379C>T
NG_051363.1:g.16598G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.102191C>T (TTN) MANE Select NP_001254479.2:p.Ala34064Val
ENST00000589042.5:c.102191C>T (TTN) MANE Select ENSP00000467141.1:p.Ala34064Val
NM_001256850.1:c.97268C>T (TTN) NP_001243779.1:p.Ala32423Val
NM_003319.4:c.74996C>T (TTN) NP_003310.4:p.Ala24999Val
NM_133378.4:c.94487C>T (TTN) NP_596869.4:p.Ala31496Val
NM_133432.3:c.75371C>T (TTN) NP_597676.3:p.Ala25124Val
NM_133437.4:c.75572C>T (TTN) NP_597681.4:p.Ala25191Val
NR_038271.1:n.446+10788G>A (TTN-AS1)
NR_038272.1:n.220-1308G>A (TTN-AS1)
ENST00000342175.10:c.75572C>T (TTN) ENSP00000340554.6:p.Ala25191Val
ENST00000342175.11:c.75572C>T (TTN) ENSP00000340554.6:p.Ala25191Val
ENST00000342992.10:c.94487C>T (TTN) ENSP00000343764.6:p.Ala31496Val
ENST00000342992.11:c.94487C>T (TTN) ENSP00000343764.6:p.Ala31496Val
ENST00000359218.10:c.75371C>T (TTN) ENSP00000352154.5:p.Ala25124Val
ENST00000359218.9:c.75371C>T (TTN) ENSP00000352154.5:p.Ala25124Val
ENST00000460472.6:c.74996C>T (TTN) ENSP00000434586.1:p.Ala24999Val
ENST00000591111.5:c.97268C>T (TTN) ENSP00000465570.1:p.Ala32423Val
ENST00000615779.4:c.97268C>T (TTN) ENSP00000483597.1:p.Ala32423Val
XM_011511729.1:c.101288C>T (TTN) XP_011510031.1:p.Ala33763Val
XM_011511730.1:c.75182C>T (TTN) XP_011510032.1:p.Ala25061Val
XM_011511731.1:c.75041C>T (TTN) XP_011510033.1:p.Ala25014Val
XM_017004819.1:c.101084C>T (TTN) XP_016860308.1:p.Ala33695Val
XM_017004820.1:c.96482C>T (TTN) XP_016860309.1:p.Ala32161Val
XM_017004821.1:c.96479C>T (TTN) XP_016860310.1:p.Ala32160Val
XM_017004822.1:c.93521C>T (TTN) XP_016860311.1:p.Ala31174Val
XM_017004823.1:c.75137C>T (TTN) XP_016860312.1:p.Ala25046Val
XM_024453094.1:c.96632C>T (TTN) XP_024308862.1:p.Ala32211Val
XM_024453095.1:c.96629C>T (TTN) XP_024308863.1:p.Ala32210Val
XM_024453096.1:c.96062C>T (TTN) XP_024308864.1:p.Ala32021Val
XM_024453097.1:c.93404C>T (TTN) XP_024308865.1:p.Ala31135Val
XM_024453098.1:c.93323C>T (TTN) XP_024308866.1:p.Ala31108Val
XM_024453099.1:c.75086C>T (TTN) XP_024308867.1:p.Ala25029Val
XM_024453100.1:c.64940C>T (TTN) XP_024308868.1:p.Ala21647Val