Canonical Allele Identifier: CA353388
Community Standard Title: NM_001267550.2(TTN):c.100445C>A (p.Ser33482Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178536302G>T , CM000664.2:g.178536302G>T GRCh38
NC_000002.11:g.179401029G>T , CM000664.1:g.179401029G>T GRCh37
NC_000002.10:g.179109275G>T NCBI36
NG_011618.3:g.299501C>A , LRG_391:g.299501C>A
NG_051363.1:g.18476G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.100445C>A (TTN) MANE Select NP_001254479.2:p.Ser33482Ter
ENST00000589042.5:c.100445C>A (TTN) MANE Select ENSP00000467141.1:p.Ser33482Ter
NM_001256850.1:c.95522C>A (TTN) NP_001243779.1:p.Ser31841Ter
NM_003319.4:c.73250C>A (TTN) NP_003310.4:p.Ser24417Ter
NM_133378.4:c.92741C>A (TTN) NP_596869.4:p.Ser30914Ter
NM_133432.3:c.73625C>A (TTN) NP_597676.3:p.Ser24542Ter
NM_133437.4:c.73826C>A (TTN) NP_597681.4:p.Ser24609Ter
NR_038271.1:n.446+12666G>T (TTN-AS1)
NR_038272.1:n.316+474G>T (TTN-AS1)
ENST00000342175.10:c.73826C>A (TTN) ENSP00000340554.6:p.Ser24609Ter
ENST00000342175.11:c.73826C>A (TTN) ENSP00000340554.6:p.Ser24609Ter
ENST00000342992.10:c.92741C>A (TTN) ENSP00000343764.6:p.Ser30914Ter
ENST00000342992.11:c.92741C>A (TTN) ENSP00000343764.6:p.Ser30914Ter
ENST00000359218.10:c.73625C>A (TTN) ENSP00000352154.5:p.Ser24542Ter
ENST00000359218.9:c.73625C>A (TTN) ENSP00000352154.5:p.Ser24542Ter
ENST00000460472.6:c.73250C>A (TTN) ENSP00000434586.1:p.Ser24417Ter
ENST00000591111.5:c.95522C>A (TTN) ENSP00000465570.1:p.Ser31841Ter
ENST00000615779.4:c.95522C>A (TTN) ENSP00000483597.1:p.Ser31841Ter
XM_011511729.1:c.99542C>A (TTN) XP_011510031.1:p.Ser33181Ter
XM_011511730.1:c.73436C>A (TTN) XP_011510032.1:p.Ser24479Ter
XM_011511731.1:c.73295C>A (TTN) XP_011510033.1:p.Ser24432Ter
XM_017004819.1:c.99338C>A (TTN) XP_016860308.1:p.Ser33113Ter
XM_017004820.1:c.94736C>A (TTN) XP_016860309.1:p.Ser31579Ter
XM_017004821.1:c.94733C>A (TTN) XP_016860310.1:p.Ser31578Ter
XM_017004822.1:c.91775C>A (TTN) XP_016860311.1:p.Ser30592Ter
XM_017004823.1:c.73391C>A (TTN) XP_016860312.1:p.Ser24464Ter
XM_024453094.1:c.94886C>A (TTN) XP_024308862.1:p.Ser31629Ter
XM_024453095.1:c.94883C>A (TTN) XP_024308863.1:p.Ser31628Ter
XM_024453096.1:c.94316C>A (TTN) XP_024308864.1:p.Ser31439Ter
XM_024453097.1:c.91658C>A (TTN) XP_024308865.1:p.Ser30553Ter
XM_024453098.1:c.91577C>A (TTN) XP_024308866.1:p.Ser30526Ter
XM_024453099.1:c.73340C>A (TTN) XP_024308867.1:p.Ser24447Ter
XM_024453100.1:c.63194C>A (TTN) XP_024308868.1:p.Ser21065Ter