Canonical Allele Identifier: CA349668893
Community Standard Title: NM_001267550.2(TTN):c.69367G>T (p.Gly23123Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178576968C>A , CM000664.2:g.178576968C>A GRCh38
NC_000002.11:g.179441695C>A , CM000664.1:g.179441695C>A GRCh37
NC_000002.10:g.179149941C>A NCBI36
NG_011618.3:g.258835G>T , LRG_391:g.258835G>T
NG_051363.1:g.59142C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.69367G>T (TTN) MANE Select NP_001254479.2:p.Gly23123Ter
ENST00000589042.5:c.69367G>T (TTN) MANE Select ENSP00000467141.1:p.Gly23123Ter
NM_001256850.1:c.64444G>T (TTN) NP_001243779.1:p.Gly21482Ter
NM_003319.4:c.42172G>T (TTN) NP_003310.4:p.Gly14058Ter
NM_133378.4:c.61663G>T (TTN) NP_596869.4:p.Gly20555Ter
NM_133432.3:c.42547G>T (TTN) NP_597676.3:p.Gly14183Ter
NM_133437.4:c.42748G>T (TTN) NP_597681.4:p.Gly14250Ter
NR_038271.1:n.596+5519C>A (TTN-AS1)
NR_038272.1:n.2044-5604C>A (TTN-AS1)
ENST00000342175.10:c.42748G>T (TTN) ENSP00000340554.6:p.Gly14250Ter
ENST00000342175.11:c.42748G>T (TTN) ENSP00000340554.6:p.Gly14250Ter
ENST00000342992.10:c.61663G>T (TTN) ENSP00000343764.6:p.Gly20555Ter
ENST00000342992.11:c.61663G>T (TTN) ENSP00000343764.6:p.Gly20555Ter
ENST00000359218.10:c.42547G>T (TTN) ENSP00000352154.5:p.Gly14183Ter
ENST00000359218.9:c.42547G>T (TTN) ENSP00000352154.5:p.Gly14183Ter
ENST00000460472.6:c.42172G>T (TTN) ENSP00000434586.1:p.Gly14058Ter
ENST00000591111.5:c.64444G>T (TTN) ENSP00000465570.1:p.Gly21482Ter
ENST00000615779.4:c.64444G>T (TTN) ENSP00000483597.1:p.Gly21482Ter
XM_011511729.1:c.68464G>T (TTN) XP_011510031.1:p.Gly22822Ter
XM_011511730.1:c.42358G>T (TTN) XP_011510032.1:p.Gly14120Ter
XM_011511731.1:c.42217G>T (TTN) XP_011510033.1:p.Gly14073Ter
XM_017004819.1:c.68260G>T (TTN) XP_016860308.1:p.Gly22754Ter
XM_017004820.1:c.63658G>T (TTN) XP_016860309.1:p.Gly21220Ter
XM_017004821.1:c.63655G>T (TTN) XP_016860310.1:p.Gly21219Ter
XM_017004822.1:c.60697G>T (TTN) XP_016860311.1:p.Gly20233Ter
XM_017004823.1:c.42313G>T (TTN) XP_016860312.1:p.Gly14105Ter
XM_024453094.1:c.63808G>T (TTN) XP_024308862.1:p.Gly21270Ter
XM_024453095.1:c.63805G>T (TTN) XP_024308863.1:p.Gly21269Ter
XM_024453096.1:c.63238G>T (TTN) XP_024308864.1:p.Gly21080Ter
XM_024453097.1:c.60580G>T (TTN) XP_024308865.1:p.Gly20194Ter
XM_024453098.1:c.60499G>T (TTN) XP_024308866.1:p.Gly20167Ter
XM_024453099.1:c.42262G>T (TTN) XP_024308867.1:p.Gly14088Ter
XM_024453100.1:c.32116G>T (TTN) XP_024308868.1:p.Gly10706Ter