Canonical Allele Identifier: CA349579182
Community Standard Title: NM_001267550.2(TTN):c.51925C>T (p.Gln17309Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178609385G>A , CM000664.2:g.178609385G>A GRCh38
NC_000002.11:g.179474112G>A , CM000664.1:g.179474112G>A GRCh37
NC_000002.10:g.179182357G>A NCBI36
NG_011618.3:g.226418C>T , LRG_391:g.226418C>T
NG_051363.1:g.91559G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.51925C>T (TTN) MANE Select NP_001254479.2:p.Gln17309Ter
ENST00000589042.5:c.51925C>T (TTN) MANE Select ENSP00000467141.1:p.Gln17309Ter
NM_001256850.1:c.47002C>T (TTN) NP_001243779.1:p.Gln15668Ter
NM_003319.4:c.24730C>T (TTN) NP_003310.4:p.Gln8244Ter
NM_133378.4:c.44221C>T (TTN) NP_596869.4:p.Gln14741Ter
NM_133432.3:c.25105C>T (TTN) NP_597676.3:p.Gln8369Ter
NM_133437.4:c.25306C>T (TTN) NP_597681.4:p.Gln8436Ter
NR_038271.1:n.782+1119G>A (TTN-AS1)
ENST00000342175.10:c.25306C>T (TTN) ENSP00000340554.6:p.Gln8436Ter
ENST00000342175.11:c.25306C>T (TTN) ENSP00000340554.6:p.Gln8436Ter
ENST00000342992.10:c.44221C>T (TTN) ENSP00000343764.6:p.Gln14741Ter
ENST00000342992.11:c.44221C>T (TTN) ENSP00000343764.6:p.Gln14741Ter
ENST00000359218.10:c.25105C>T (TTN) ENSP00000352154.5:p.Gln8369Ter
ENST00000359218.9:c.25105C>T (TTN) ENSP00000352154.5:p.Gln8369Ter
ENST00000460472.6:c.24730C>T (TTN) ENSP00000434586.1:p.Gln8244Ter
ENST00000591111.5:c.47002C>T (TTN) ENSP00000465570.1:p.Gln15668Ter
ENST00000615779.4:c.47002C>T (TTN) ENSP00000483597.1:p.Gln15668Ter
XM_011511729.1:c.51022C>T (TTN) XP_011510031.1:p.Gln17008Ter
XM_011511730.1:c.24916C>T (TTN) XP_011510032.1:p.Gln8306Ter
XM_011511731.1:c.24775C>T (TTN) XP_011510033.1:p.Gln8259Ter
XM_017004819.1:c.50818C>T (TTN) XP_016860308.1:p.Gln16940Ter
XM_017004820.1:c.46216C>T (TTN) XP_016860309.1:p.Gln15406Ter
XM_017004821.1:c.46213C>T (TTN) XP_016860310.1:p.Gln15405Ter
XM_017004822.1:c.43255C>T (TTN) XP_016860311.1:p.Gln14419Ter
XM_017004823.1:c.24871C>T (TTN) XP_016860312.1:p.Gln8291Ter
XM_024453094.1:c.46366C>T (TTN) XP_024308862.1:p.Gln15456Ter
XM_024453095.1:c.46363C>T (TTN) XP_024308863.1:p.Gln15455Ter
XM_024453096.1:c.45796C>T (TTN) XP_024308864.1:p.Gln15266Ter
XM_024453097.1:c.43138C>T (TTN) XP_024308865.1:p.Gln14380Ter
XM_024453098.1:c.43057C>T (TTN) XP_024308866.1:p.Gln14353Ter
XM_024453099.1:c.24820C>T (TTN) XP_024308867.1:p.Gln8274Ter
XM_024453100.1:c.14674C>T (TTN) XP_024308868.1:p.Gln4892Ter