Canonical Allele Identifier: CA349421957
Community Standard Title: NM_001267550.2(TTN):c.101035C>T (p.Gln33679Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178535580G>A , CM000664.2:g.178535580G>A GRCh38
NC_000002.11:g.179400307G>A , CM000664.1:g.179400307G>A GRCh37
NC_000002.10:g.179108553G>A NCBI36
NG_011618.3:g.300223C>T , LRG_391:g.300223C>T
NG_051363.1:g.17754G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.101035C>T (TTN) MANE Select NP_001254479.2:p.Gln33679Ter
ENST00000589042.5:c.101035C>T (TTN) MANE Select ENSP00000467141.1:p.Gln33679Ter
NM_001256850.1:c.96112C>T (TTN) NP_001243779.1:p.Gln32038Ter
NM_003319.4:c.73840C>T (TTN) NP_003310.4:p.Gln24614Ter
NM_133378.4:c.93331C>T (TTN) NP_596869.4:p.Gln31111Ter
NM_133432.3:c.74215C>T (TTN) NP_597676.3:p.Gln24739Ter
NM_133437.4:c.74416C>T (TTN) NP_597681.4:p.Gln24806Ter
NR_038271.1:n.446+11944G>A (TTN-AS1)
NR_038272.1:n.220-152G>A (TTN-AS1)
ENST00000342175.10:c.74416C>T (TTN) ENSP00000340554.6:p.Gln24806Ter
ENST00000342175.11:c.74416C>T (TTN) ENSP00000340554.6:p.Gln24806Ter
ENST00000342992.10:c.93331C>T (TTN) ENSP00000343764.6:p.Gln31111Ter
ENST00000342992.11:c.93331C>T (TTN) ENSP00000343764.6:p.Gln31111Ter
ENST00000359218.10:c.74215C>T (TTN) ENSP00000352154.5:p.Gln24739Ter
ENST00000359218.9:c.74215C>T (TTN) ENSP00000352154.5:p.Gln24739Ter
ENST00000460472.6:c.73840C>T (TTN) ENSP00000434586.1:p.Gln24614Ter
ENST00000591111.5:c.96112C>T (TTN) ENSP00000465570.1:p.Gln32038Ter
ENST00000615779.4:c.96112C>T (TTN) ENSP00000483597.1:p.Gln32038Ter
XM_011511729.1:c.100132C>T (TTN) XP_011510031.1:p.Gln33378Ter
XM_011511730.1:c.74026C>T (TTN) XP_011510032.1:p.Gln24676Ter
XM_011511731.1:c.73885C>T (TTN) XP_011510033.1:p.Gln24629Ter
XM_017004819.1:c.99928C>T (TTN) XP_016860308.1:p.Gln33310Ter
XM_017004820.1:c.95326C>T (TTN) XP_016860309.1:p.Gln31776Ter
XM_017004821.1:c.95323C>T (TTN) XP_016860310.1:p.Gln31775Ter
XM_017004822.1:c.92365C>T (TTN) XP_016860311.1:p.Gln30789Ter
XM_017004823.1:c.73981C>T (TTN) XP_016860312.1:p.Gln24661Ter
XM_024453094.1:c.95476C>T (TTN) XP_024308862.1:p.Gln31826Ter
XM_024453095.1:c.95473C>T (TTN) XP_024308863.1:p.Gln31825Ter
XM_024453096.1:c.94906C>T (TTN) XP_024308864.1:p.Gln31636Ter
XM_024453097.1:c.92248C>T (TTN) XP_024308865.1:p.Gln30750Ter
XM_024453098.1:c.92167C>T (TTN) XP_024308866.1:p.Gln30723Ter
XM_024453099.1:c.73930C>T (TTN) XP_024308867.1:p.Gln24644Ter
XM_024453100.1:c.63784C>T (TTN) XP_024308868.1:p.Gln21262Ter