Canonical Allele Identifier: CA349431604
Community Standard Title: NM_001267550.2(TTN):c.98803G>T (p.Glu32935Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178539132C>A , CM000664.2:g.178539132C>A GRCh38
NC_000002.11:g.179403859C>A , CM000664.1:g.179403859C>A GRCh37
NC_000002.10:g.179112105C>A NCBI36
NG_011618.3:g.296671G>T , LRG_391:g.296671G>T
NG_051363.1:g.21306C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.98803G>T (TTN) MANE Select NP_001254479.2:p.Glu32935Ter
ENST00000589042.5:c.98803G>T (TTN) MANE Select ENSP00000467141.1:p.Glu32935Ter
NM_001256850.1:c.93880G>T (TTN) NP_001243779.1:p.Glu31294Ter
NM_003319.4:c.71608G>T (TTN) NP_003310.4:p.Glu23870Ter
NM_133378.4:c.91099G>T (TTN) NP_596869.4:p.Glu30367Ter
NM_133432.3:c.71983G>T (TTN) NP_597676.3:p.Glu23995Ter
NM_133437.4:c.72184G>T (TTN) NP_597681.4:p.Glu24062Ter
NR_038271.1:n.446+15496C>A (TTN-AS1)
NR_038272.1:n.1082C>A (TTN-AS1)
ENST00000342175.10:c.72184G>T (TTN) ENSP00000340554.6:p.Glu24062Ter
ENST00000342175.11:c.72184G>T (TTN) ENSP00000340554.6:p.Glu24062Ter
ENST00000342992.10:c.91099G>T (TTN) ENSP00000343764.6:p.Glu30367Ter
ENST00000342992.11:c.91099G>T (TTN) ENSP00000343764.6:p.Glu30367Ter
ENST00000359218.10:c.71983G>T (TTN) ENSP00000352154.5:p.Glu23995Ter
ENST00000359218.9:c.71983G>T (TTN) ENSP00000352154.5:p.Glu23995Ter
ENST00000460472.6:c.71608G>T (TTN) ENSP00000434586.1:p.Glu23870Ter
ENST00000591111.5:c.93880G>T (TTN) ENSP00000465570.1:p.Glu31294Ter
ENST00000615779.4:c.93880G>T (TTN) ENSP00000483597.1:p.Glu31294Ter
XM_011511729.1:c.97900G>T (TTN) XP_011510031.1:p.Glu32634Ter
XM_011511730.1:c.71794G>T (TTN) XP_011510032.1:p.Glu23932Ter
XM_011511731.1:c.71653G>T (TTN) XP_011510033.1:p.Glu23885Ter
XM_017004819.1:c.97696G>T (TTN) XP_016860308.1:p.Glu32566Ter
XM_017004820.1:c.93094G>T (TTN) XP_016860309.1:p.Glu31032Ter
XM_017004821.1:c.93091G>T (TTN) XP_016860310.1:p.Glu31031Ter
XM_017004822.1:c.90133G>T (TTN) XP_016860311.1:p.Glu30045Ter
XM_017004823.1:c.71749G>T (TTN) XP_016860312.1:p.Glu23917Ter
XM_024453094.1:c.93244G>T (TTN) XP_024308862.1:p.Glu31082Ter
XM_024453095.1:c.93241G>T (TTN) XP_024308863.1:p.Glu31081Ter
XM_024453096.1:c.92674G>T (TTN) XP_024308864.1:p.Glu30892Ter
XM_024453097.1:c.90016G>T (TTN) XP_024308865.1:p.Glu30006Ter
XM_024453098.1:c.89935G>T (TTN) XP_024308866.1:p.Glu29979Ter
XM_024453099.1:c.71698G>T (TTN) XP_024308867.1:p.Glu23900Ter
XM_024453100.1:c.61552G>T (TTN) XP_024308868.1:p.Glu20518Ter