Canonical Allele Identifier: CA349645833
Community Standard Title: NM_001267550.2(TTN):c.72730G>T (p.Gly24244Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178573402C>A , CM000664.2:g.178573402C>A GRCh38
NC_000002.11:g.179438129C>A , CM000664.1:g.179438129C>A GRCh37
NC_000002.10:g.179146375C>A NCBI36
NG_011618.3:g.262401G>T , LRG_391:g.262401G>T
NG_051363.1:g.55576C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.72730G>T (TTN) MANE Select NP_001254479.2:p.Gly24244Ter
ENST00000589042.5:c.72730G>T (TTN) MANE Select ENSP00000467141.1:p.Gly24244Ter
NM_001256850.1:c.67807G>T (TTN) NP_001243779.1:p.Gly22603Ter
NM_003319.4:c.45535G>T (TTN) NP_003310.4:p.Gly15179Ter
NM_133378.4:c.65026G>T (TTN) NP_596869.4:p.Gly21676Ter
NM_133432.3:c.45910G>T (TTN) NP_597676.3:p.Gly15304Ter
NM_133437.4:c.46111G>T (TTN) NP_597681.4:p.Gly15371Ter
NR_038271.1:n.596+1953C>A (TTN-AS1)
NR_038272.1:n.2044-9170C>A (TTN-AS1)
ENST00000342175.10:c.46111G>T (TTN) ENSP00000340554.6:p.Gly15371Ter
ENST00000342175.11:c.46111G>T (TTN) ENSP00000340554.6:p.Gly15371Ter
ENST00000342992.10:c.65026G>T (TTN) ENSP00000343764.6:p.Gly21676Ter
ENST00000342992.11:c.65026G>T (TTN) ENSP00000343764.6:p.Gly21676Ter
ENST00000359218.10:c.45910G>T (TTN) ENSP00000352154.5:p.Gly15304Ter
ENST00000359218.9:c.45910G>T (TTN) ENSP00000352154.5:p.Gly15304Ter
ENST00000460472.6:c.45535G>T (TTN) ENSP00000434586.1:p.Gly15179Ter
ENST00000591111.5:c.67807G>T (TTN) ENSP00000465570.1:p.Gly22603Ter
ENST00000615779.4:c.67807G>T (TTN) ENSP00000483597.1:p.Gly22603Ter
XM_011511729.1:c.71827G>T (TTN) XP_011510031.1:p.Gly23943Ter
XM_011511730.1:c.45721G>T (TTN) XP_011510032.1:p.Gly15241Ter
XM_011511731.1:c.45580G>T (TTN) XP_011510033.1:p.Gly15194Ter
XM_017004819.1:c.71623G>T (TTN) XP_016860308.1:p.Gly23875Ter
XM_017004820.1:c.67021G>T (TTN) XP_016860309.1:p.Gly22341Ter
XM_017004821.1:c.67018G>T (TTN) XP_016860310.1:p.Gly22340Ter
XM_017004822.1:c.64060G>T (TTN) XP_016860311.1:p.Gly21354Ter
XM_017004823.1:c.45676G>T (TTN) XP_016860312.1:p.Gly15226Ter
XM_024453094.1:c.67171G>T (TTN) XP_024308862.1:p.Gly22391Ter
XM_024453095.1:c.67168G>T (TTN) XP_024308863.1:p.Gly22390Ter
XM_024453096.1:c.66601G>T (TTN) XP_024308864.1:p.Gly22201Ter
XM_024453097.1:c.63943G>T (TTN) XP_024308865.1:p.Gly21315Ter
XM_024453098.1:c.63862G>T (TTN) XP_024308866.1:p.Gly21288Ter
XM_024453099.1:c.45625G>T (TTN) XP_024308867.1:p.Gly15209Ter
XM_024453100.1:c.35479G>T (TTN) XP_024308868.1:p.Gly11827Ter