Canonical Allele Identifier: CA349660525
Community Standard Title: NM_001267550.2(TTN):c.70879C>T (p.Gln23627Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178575253G>A , CM000664.2:g.178575253G>A GRCh38
NC_000002.11:g.179439980G>A , CM000664.1:g.179439980G>A GRCh37
NC_000002.10:g.179148226G>A NCBI36
NG_011618.3:g.260550C>T , LRG_391:g.260550C>T
NG_051363.1:g.57427G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.70879C>T (TTN) MANE Select NP_001254479.2:p.Gln23627Ter
ENST00000589042.5:c.70879C>T (TTN) MANE Select ENSP00000467141.1:p.Gln23627Ter
NM_001256850.1:c.65956C>T (TTN) NP_001243779.1:p.Gln21986Ter
NM_003319.4:c.43684C>T (TTN) NP_003310.4:p.Gln14562Ter
NM_133378.4:c.63175C>T (TTN) NP_596869.4:p.Gln21059Ter
NM_133432.3:c.44059C>T (TTN) NP_597676.3:p.Gln14687Ter
NM_133437.4:c.44260C>T (TTN) NP_597681.4:p.Gln14754Ter
NR_038271.1:n.596+3804G>A (TTN-AS1)
NR_038272.1:n.2044-7319G>A (TTN-AS1)
ENST00000342175.10:c.44260C>T (TTN) ENSP00000340554.6:p.Gln14754Ter
ENST00000342175.11:c.44260C>T (TTN) ENSP00000340554.6:p.Gln14754Ter
ENST00000342992.10:c.63175C>T (TTN) ENSP00000343764.6:p.Gln21059Ter
ENST00000342992.11:c.63175C>T (TTN) ENSP00000343764.6:p.Gln21059Ter
ENST00000359218.10:c.44059C>T (TTN) ENSP00000352154.5:p.Gln14687Ter
ENST00000359218.9:c.44059C>T (TTN) ENSP00000352154.5:p.Gln14687Ter
ENST00000460472.6:c.43684C>T (TTN) ENSP00000434586.1:p.Gln14562Ter
ENST00000591111.5:c.65956C>T (TTN) ENSP00000465570.1:p.Gln21986Ter
ENST00000615779.4:c.65956C>T (TTN) ENSP00000483597.1:p.Gln21986Ter
XM_011511729.1:c.69976C>T (TTN) XP_011510031.1:p.Gln23326Ter
XM_011511730.1:c.43870C>T (TTN) XP_011510032.1:p.Gln14624Ter
XM_011511731.1:c.43729C>T (TTN) XP_011510033.1:p.Gln14577Ter
XM_017004819.1:c.69772C>T (TTN) XP_016860308.1:p.Gln23258Ter
XM_017004820.1:c.65170C>T (TTN) XP_016860309.1:p.Gln21724Ter
XM_017004821.1:c.65167C>T (TTN) XP_016860310.1:p.Gln21723Ter
XM_017004822.1:c.62209C>T (TTN) XP_016860311.1:p.Gln20737Ter
XM_017004823.1:c.43825C>T (TTN) XP_016860312.1:p.Gln14609Ter
XM_024453094.1:c.65320C>T (TTN) XP_024308862.1:p.Gln21774Ter
XM_024453095.1:c.65317C>T (TTN) XP_024308863.1:p.Gln21773Ter
XM_024453096.1:c.64750C>T (TTN) XP_024308864.1:p.Gln21584Ter
XM_024453097.1:c.62092C>T (TTN) XP_024308865.1:p.Gln20698Ter
XM_024453098.1:c.62011C>T (TTN) XP_024308866.1:p.Gln20671Ter
XM_024453099.1:c.43774C>T (TTN) XP_024308867.1:p.Gln14592Ter
XM_024453100.1:c.33628C>T (TTN) XP_024308868.1:p.Gln11210Ter