Canonical Allele Identifier: CA349564708
Community Standard Title: NM_001267550.2(TTN):c.53374G>T (p.Gly17792Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178607228C>A , CM000664.2:g.178607228C>A GRCh38
NC_000002.11:g.179471955C>A , CM000664.1:g.179471955C>A GRCh37
NC_000002.10:g.179180200C>A NCBI36
NG_011618.3:g.228575G>T , LRG_391:g.228575G>T
NG_051363.1:g.89402C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.53374G>T (TTN) MANE Select NP_001254479.2:p.Gly17792Ter
ENST00000589042.5:c.53374G>T (TTN) MANE Select ENSP00000467141.1:p.Gly17792Ter
NM_001256850.1:c.48451G>T (TTN) NP_001243779.1:p.Gly16151Ter
NM_003319.4:c.26179G>T (TTN) NP_003310.4:p.Gly8727Ter
NM_133378.4:c.45670G>T (TTN) NP_596869.4:p.Gly15224Ter
NM_133432.3:c.26554G>T (TTN) NP_597676.3:p.Gly8852Ter
NM_133437.4:c.26755G>T (TTN) NP_597681.4:p.Gly8919Ter
NR_038271.1:n.683-939C>A (TTN-AS1)
ENST00000342175.10:c.26755G>T (TTN) ENSP00000340554.6:p.Gly8919Ter
ENST00000342175.11:c.26755G>T (TTN) ENSP00000340554.6:p.Gly8919Ter
ENST00000342992.10:c.45670G>T (TTN) ENSP00000343764.6:p.Gly15224Ter
ENST00000342992.11:c.45670G>T (TTN) ENSP00000343764.6:p.Gly15224Ter
ENST00000359218.10:c.26554G>T (TTN) ENSP00000352154.5:p.Gly8852Ter
ENST00000359218.9:c.26554G>T (TTN) ENSP00000352154.5:p.Gly8852Ter
ENST00000460472.6:c.26179G>T (TTN) ENSP00000434586.1:p.Gly8727Ter
ENST00000591111.5:c.48451G>T (TTN) ENSP00000465570.1:p.Gly16151Ter
ENST00000615779.4:c.48451G>T (TTN) ENSP00000483597.1:p.Gly16151Ter
XM_011511729.1:c.52471G>T (TTN) XP_011510031.1:p.Gly17491Ter
XM_011511730.1:c.26365G>T (TTN) XP_011510032.1:p.Gly8789Ter
XM_011511731.1:c.26224G>T (TTN) XP_011510033.1:p.Gly8742Ter
XM_017004819.1:c.52267G>T (TTN) XP_016860308.1:p.Gly17423Ter
XM_017004820.1:c.47665G>T (TTN) XP_016860309.1:p.Gly15889Ter
XM_017004821.1:c.47662G>T (TTN) XP_016860310.1:p.Gly15888Ter
XM_017004822.1:c.44704G>T (TTN) XP_016860311.1:p.Gly14902Ter
XM_017004823.1:c.26320G>T (TTN) XP_016860312.1:p.Gly8774Ter
XM_024453094.1:c.47815G>T (TTN) XP_024308862.1:p.Gly15939Ter
XM_024453095.1:c.47812G>T (TTN) XP_024308863.1:p.Gly15938Ter
XM_024453096.1:c.47245G>T (TTN) XP_024308864.1:p.Gly15749Ter
XM_024453097.1:c.44587G>T (TTN) XP_024308865.1:p.Gly14863Ter
XM_024453098.1:c.44506G>T (TTN) XP_024308866.1:p.Gly14836Ter
XM_024453099.1:c.26269G>T (TTN) XP_024308867.1:p.Gly8757Ter
XM_024453100.1:c.16123G>T (TTN) XP_024308868.1:p.Gly5375Ter