Canonical Allele Identifier: CA349428728
Community Standard Title: NM_001267550.2(TTN):c.99366C>A (p.Cys33122Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178537841G>T , CM000664.2:g.178537841G>T GRCh38
NC_000002.11:g.179402568G>T , CM000664.1:g.179402568G>T GRCh37
NC_000002.10:g.179110814G>T NCBI36
NG_011618.3:g.297962C>A , LRG_391:g.297962C>A
NG_051363.1:g.20015G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.99366C>A (TTN) MANE Select NP_001254479.2:p.Cys33122Ter
ENST00000589042.5:c.99366C>A (TTN) MANE Select ENSP00000467141.1:p.Cys33122Ter
NM_001256850.1:c.94443C>A (TTN) NP_001243779.1:p.Cys31481Ter
NM_003319.4:c.72171C>A (TTN) NP_003310.4:p.Cys24057Ter
NM_133378.4:c.91662C>A (TTN) NP_596869.4:p.Cys30554Ter
NM_133432.3:c.72546C>A (TTN) NP_597676.3:p.Cys24182Ter
NM_133437.4:c.72747C>A (TTN) NP_597681.4:p.Cys24249Ter
NR_038271.1:n.446+14205G>T (TTN-AS1)
NR_038272.1:n.647+150G>T (TTN-AS1)
ENST00000342175.10:c.72747C>A (TTN) ENSP00000340554.6:p.Cys24249Ter
ENST00000342175.11:c.72747C>A (TTN) ENSP00000340554.6:p.Cys24249Ter
ENST00000342992.10:c.91662C>A (TTN) ENSP00000343764.6:p.Cys30554Ter
ENST00000342992.11:c.91662C>A (TTN) ENSP00000343764.6:p.Cys30554Ter
ENST00000359218.10:c.72546C>A (TTN) ENSP00000352154.5:p.Cys24182Ter
ENST00000359218.9:c.72546C>A (TTN) ENSP00000352154.5:p.Cys24182Ter
ENST00000460472.6:c.72171C>A (TTN) ENSP00000434586.1:p.Cys24057Ter
ENST00000591111.5:c.94443C>A (TTN) ENSP00000465570.1:p.Cys31481Ter
ENST00000615779.4:c.94443C>A (TTN) ENSP00000483597.1:p.Cys31481Ter
XM_011511729.1:c.98463C>A (TTN) XP_011510031.1:p.Cys32821Ter
XM_011511730.1:c.72357C>A (TTN) XP_011510032.1:p.Cys24119Ter
XM_011511731.1:c.72216C>A (TTN) XP_011510033.1:p.Cys24072Ter
XM_017004819.1:c.98259C>A (TTN) XP_016860308.1:p.Cys32753Ter
XM_017004820.1:c.93657C>A (TTN) XP_016860309.1:p.Cys31219Ter
XM_017004821.1:c.93654C>A (TTN) XP_016860310.1:p.Cys31218Ter
XM_017004822.1:c.90696C>A (TTN) XP_016860311.1:p.Cys30232Ter
XM_017004823.1:c.72312C>A (TTN) XP_016860312.1:p.Cys24104Ter
XM_024453094.1:c.93807C>A (TTN) XP_024308862.1:p.Cys31269Ter
XM_024453095.1:c.93804C>A (TTN) XP_024308863.1:p.Cys31268Ter
XM_024453096.1:c.93237C>A (TTN) XP_024308864.1:p.Cys31079Ter
XM_024453097.1:c.90579C>A (TTN) XP_024308865.1:p.Cys30193Ter
XM_024453098.1:c.90498C>A (TTN) XP_024308866.1:p.Cys30166Ter
XM_024453099.1:c.72261C>A (TTN) XP_024308867.1:p.Cys24087Ter
XM_024453100.1:c.62115C>A (TTN) XP_024308868.1:p.Cys20705Ter