Canonical Allele Identifier: CA349593133

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178566250G>A , CM000664.2:g.178566250G>A	GRCh38
NC_000002.11:g.179430977G>A , CM000664.1:g.179430977G>A	GRCh37
NC_000002.10:g.179139223G>A	NCBI36
NG_011618.3:g.269553C>T , LRG_391:g.269553C>T
NG_051363.1:g.48424G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.79882C>T (TTN) MANE Select	NP_001254479.2:p.Arg26628Ter
ENST00000589042.5:c.79882C>T (TTN) MANE Select	ENSP00000467141.1:p.Arg26628Ter
NM_001256850.1:c.74959C>T (TTN)	NP_001243779.1:p.Arg24987Ter
NM_003319.4:c.52687C>T (TTN)	NP_003310.4:p.Arg17563Ter
NM_133378.4:c.72178C>T (TTN)	NP_596869.4:p.Arg24060Ter
NM_133432.3:c.53062C>T (TTN)	NP_597676.3:p.Arg17688Ter
NM_133437.4:c.53263C>T (TTN)	NP_597681.4:p.Arg17755Ter
NR_038271.1:n.447-5050G>A (TTN-AS1)
NR_038272.1:n.2044-16322G>A (TTN-AS1)
ENST00000342175.10:c.53263C>T (TTN)	ENSP00000340554.6:p.Arg17755Ter
ENST00000342175.11:c.53263C>T (TTN)	ENSP00000340554.6:p.Arg17755Ter
ENST00000342992.10:c.72178C>T (TTN)	ENSP00000343764.6:p.Arg24060Ter
ENST00000342992.11:c.72178C>T (TTN)	ENSP00000343764.6:p.Arg24060Ter
ENST00000359218.10:c.53062C>T (TTN)	ENSP00000352154.5:p.Arg17688Ter
ENST00000359218.9:c.53062C>T (TTN)	ENSP00000352154.5:p.Arg17688Ter
ENST00000460472.6:c.52687C>T (TTN)	ENSP00000434586.1:p.Arg17563Ter
ENST00000591111.5:c.74959C>T (TTN)	ENSP00000465570.1:p.Arg24987Ter
ENST00000615779.4:c.74959C>T (TTN)	ENSP00000483597.1:p.Arg24987Ter
XM_011511729.1:c.78979C>T (TTN)	XP_011510031.1:p.Arg26327Ter
XM_011511730.1:c.52873C>T (TTN)	XP_011510032.1:p.Arg17625Ter
XM_011511731.1:c.52732C>T (TTN)	XP_011510033.1:p.Arg17578Ter
XM_017004819.1:c.78775C>T (TTN)	XP_016860308.1:p.Arg26259Ter
XM_017004820.1:c.74173C>T (TTN)	XP_016860309.1:p.Arg24725Ter
XM_017004821.1:c.74170C>T (TTN)	XP_016860310.1:p.Arg24724Ter
XM_017004822.1:c.71212C>T (TTN)	XP_016860311.1:p.Arg23738Ter
XM_017004823.1:c.52828C>T (TTN)	XP_016860312.1:p.Arg17610Ter
XM_024453094.1:c.74323C>T (TTN)	XP_024308862.1:p.Arg24775Ter
XM_024453095.1:c.74320C>T (TTN)	XP_024308863.1:p.Arg24774Ter
XM_024453096.1:c.73753C>T (TTN)	XP_024308864.1:p.Arg24585Ter
XM_024453097.1:c.71095C>T (TTN)	XP_024308865.1:p.Arg23699Ter
XM_024453098.1:c.71014C>T (TTN)	XP_024308866.1:p.Arg23672Ter
XM_024453099.1:c.52777C>T (TTN)	XP_024308867.1:p.Arg17593Ter
XM_024453100.1:c.42631C>T (TTN)	XP_024308868.1:p.Arg14211Ter