Canonical Allele Identifier: CA349440615
Community Standard Title: NM_001267550.2(TTN):c.97312G>T (p.Glu32438Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178542444C>A , CM000664.2:g.178542444C>A GRCh38
NC_000002.11:g.179407171C>A , CM000664.1:g.179407171C>A GRCh37
NC_000002.10:g.179115417C>A NCBI36
NG_011618.3:g.293359G>T , LRG_391:g.293359G>T
NG_051363.1:g.24618C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.97312G>T (TTN) MANE Select NP_001254479.2:p.Glu32438Ter
ENST00000589042.5:c.97312G>T (TTN) MANE Select ENSP00000467141.1:p.Glu32438Ter
NM_001256850.1:c.92389G>T (TTN) NP_001243779.1:p.Glu30797Ter
NM_003319.4:c.70117G>T (TTN) NP_003310.4:p.Glu23373Ter
NM_133378.4:c.89608G>T (TTN) NP_596869.4:p.Glu29870Ter
NM_133432.3:c.70492G>T (TTN) NP_597676.3:p.Glu23498Ter
NM_133437.4:c.70693G>T (TTN) NP_597681.4:p.Glu23565Ter
NR_038271.1:n.446+18808C>A (TTN-AS1)
NR_038272.1:n.2043+83C>A (TTN-AS1)
ENST00000342175.10:c.70693G>T (TTN) ENSP00000340554.6:p.Glu23565Ter
ENST00000342175.11:c.70693G>T (TTN) ENSP00000340554.6:p.Glu23565Ter
ENST00000342992.10:c.89608G>T (TTN) ENSP00000343764.6:p.Glu29870Ter
ENST00000342992.11:c.89608G>T (TTN) ENSP00000343764.6:p.Glu29870Ter
ENST00000359218.10:c.70492G>T (TTN) ENSP00000352154.5:p.Glu23498Ter
ENST00000359218.9:c.70492G>T (TTN) ENSP00000352154.5:p.Glu23498Ter
ENST00000460472.6:c.70117G>T (TTN) ENSP00000434586.1:p.Glu23373Ter
ENST00000591111.5:c.92389G>T (TTN) ENSP00000465570.1:p.Glu30797Ter
ENST00000615779.4:c.92389G>T (TTN) ENSP00000483597.1:p.Glu30797Ter
XM_011511729.1:c.96409G>T (TTN) XP_011510031.1:p.Glu32137Ter
XM_011511730.1:c.70303G>T (TTN) XP_011510032.1:p.Glu23435Ter
XM_011511731.1:c.70162G>T (TTN) XP_011510033.1:p.Glu23388Ter
XM_017004819.1:c.96205G>T (TTN) XP_016860308.1:p.Glu32069Ter
XM_017004820.1:c.91603G>T (TTN) XP_016860309.1:p.Glu30535Ter
XM_017004821.1:c.91600G>T (TTN) XP_016860310.1:p.Glu30534Ter
XM_017004822.1:c.88642G>T (TTN) XP_016860311.1:p.Glu29548Ter
XM_017004823.1:c.70258G>T (TTN) XP_016860312.1:p.Glu23420Ter
XM_024453094.1:c.91753G>T (TTN) XP_024308862.1:p.Glu30585Ter
XM_024453095.1:c.91750G>T (TTN) XP_024308863.1:p.Glu30584Ter
XM_024453096.1:c.91183G>T (TTN) XP_024308864.1:p.Glu30395Ter
XM_024453097.1:c.88525G>T (TTN) XP_024308865.1:p.Glu29509Ter
XM_024453098.1:c.88444G>T (TTN) XP_024308866.1:p.Glu29482Ter
XM_024453099.1:c.70207G>T (TTN) XP_024308867.1:p.Glu23403Ter
XM_024453100.1:c.60061G>T (TTN) XP_024308868.1:p.Glu20021Ter