Canonical Allele Identifier: CA349445995
Community Standard Title: NM_001267550.2(TTN):c.64082C>A (p.Ser21361Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178587129G>T , CM000664.2:g.178587129G>T GRCh38
NC_000002.11:g.179451856G>T , CM000664.1:g.179451856G>T GRCh37
NC_000002.10:g.179160102G>T NCBI36
NG_011618.3:g.248674C>A , LRG_391:g.248674C>A
NG_051363.1:g.69303G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.64082C>A (TTN) MANE Select NP_001254479.2:p.Ser21361Ter
ENST00000589042.5:c.64082C>A (TTN) MANE Select ENSP00000467141.1:p.Ser21361Ter
NM_001256850.1:c.59159C>A (TTN) NP_001243779.1:p.Ser19720Ter
NM_003319.4:c.36887C>A (TTN) NP_003310.4:p.Ser12296Ter
NM_133378.4:c.56378C>A (TTN) NP_596869.4:p.Ser18793Ter
NM_133432.3:c.37262C>A (TTN) NP_597676.3:p.Ser12421Ter
NM_133437.4:c.37463C>A (TTN) NP_597681.4:p.Ser12488Ter
NR_038271.1:n.597-10467G>T (TTN-AS1)
NR_038272.1:n.3188+2136G>T (TTN-AS1)
ENST00000342175.10:c.37463C>A (TTN) ENSP00000340554.6:p.Ser12488Ter
ENST00000342175.11:c.37463C>A (TTN) ENSP00000340554.6:p.Ser12488Ter
ENST00000342992.10:c.56378C>A (TTN) ENSP00000343764.6:p.Ser18793Ter
ENST00000342992.11:c.56378C>A (TTN) ENSP00000343764.6:p.Ser18793Ter
ENST00000359218.10:c.37262C>A (TTN) ENSP00000352154.5:p.Ser12421Ter
ENST00000359218.9:c.37262C>A (TTN) ENSP00000352154.5:p.Ser12421Ter
ENST00000460472.6:c.36887C>A (TTN) ENSP00000434586.1:p.Ser12296Ter
ENST00000591111.5:c.59159C>A (TTN) ENSP00000465570.1:p.Ser19720Ter
ENST00000615779.4:c.59159C>A (TTN) ENSP00000483597.1:p.Ser19720Ter
XM_011511729.1:c.63179C>A (TTN) XP_011510031.1:p.Ser21060Ter
XM_011511730.1:c.37073C>A (TTN) XP_011510032.1:p.Ser12358Ter
XM_011511731.1:c.36932C>A (TTN) XP_011510033.1:p.Ser12311Ter
XM_017004819.1:c.62975C>A (TTN) XP_016860308.1:p.Ser20992Ter
XM_017004820.1:c.58373C>A (TTN) XP_016860309.1:p.Ser19458Ter
XM_017004821.1:c.58370C>A (TTN) XP_016860310.1:p.Ser19457Ter
XM_017004822.1:c.55412C>A (TTN) XP_016860311.1:p.Ser18471Ter
XM_017004823.1:c.37028C>A (TTN) XP_016860312.1:p.Ser12343Ter
XM_024453094.1:c.58523C>A (TTN) XP_024308862.1:p.Ser19508Ter
XM_024453095.1:c.58520C>A (TTN) XP_024308863.1:p.Ser19507Ter
XM_024453096.1:c.57953C>A (TTN) XP_024308864.1:p.Ser19318Ter
XM_024453097.1:c.55295C>A (TTN) XP_024308865.1:p.Ser18432Ter
XM_024453098.1:c.55214C>A (TTN) XP_024308866.1:p.Ser18405Ter
XM_024453099.1:c.36977C>A (TTN) XP_024308867.1:p.Ser12326Ter
XM_024453100.1:c.26831C>A (TTN) XP_024308868.1:p.Ser8944Ter