Canonical Allele Identifier: CA349406968

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179395212T>A (hg19) ; chr2:g.178530485T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530485T>A , CM000664.2:g.178530485T>A	GRCh38
NC_000002.11:g.179395212T>A , CM000664.1:g.179395212T>A	GRCh37
NC_000002.10:g.179103458T>A	NCBI36
NG_011618.3:g.305318A>T , LRG_391:g.305318A>T
NG_051363.1:g.12659T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98426A>T (TTN)	ENSP00000343764.6:p.Gln32809Leu
ENST00000342175.11:c.79511A>T (TTN)	ENSP00000340554.6:p.Gln26504Leu
ENST00000359218.10:c.79310A>T (TTN)	ENSP00000352154.5:p.Gln26437Leu
ENST00000342175.10:c.79511A>T (TTN)	ENSP00000340554.6:p.Gln26504Leu
ENST00000342992.10:c.98426A>T (TTN)	ENSP00000343764.6:p.Gln32809Leu
ENST00000359218.9:c.79310A>T (TTN)	ENSP00000352154.5:p.Gln26437Leu
ENST00000460472.6:c.78935A>T (TTN)	ENSP00000434586.1:p.Gln26312Leu
ENST00000589042.5:c.106130A>T (TTN) MANE Select	ENSP00000467141.1:p.Gln35377Leu
ENST00000591111.5:c.101207A>T (TTN)	ENSP00000465570.1:p.Gln33736Leu
ENST00000615779.4:c.101207A>T (TTN)	ENSP00000483597.1:p.Gln33736Leu
NM_001256850.1:c.101207A>T (TTN)	NP_001243779.1:p.Gln33736Leu
NM_001267550.2:c.106130A>T (TTN) MANE Select	NP_001254479.2:p.Gln35377Leu
NM_003319.4:c.78935A>T (TTN)	NP_003310.4:p.Gln26312Leu
NM_133378.4:c.98426A>T (TTN)	NP_596869.4:p.Gln32809Leu
NM_133432.3:c.79310A>T (TTN)	NP_597676.3:p.Gln26437Leu
NM_133437.4:c.79511A>T (TTN)	NP_597681.4:p.Gln26504Leu
NR_038271.1:n.446+6849T>A (TTN-AS1)
NR_038272.1:n.220-5247T>A (TTN-AS1)
XM_011511729.1:c.105227A>T (TTN)	XP_011510031.1:p.Gln35076Leu
XM_011511730.1:c.79121A>T (TTN)	XP_011510032.1:p.Gln26374Leu
XM_011511731.1:c.78980A>T (TTN)	XP_011510033.1:p.Gln26327Leu
XM_017004819.1:c.105023A>T (TTN)	XP_016860308.1:p.Gln35008Leu
XM_017004820.1:c.100421A>T (TTN)	XP_016860309.1:p.Gln33474Leu
XM_017004821.1:c.100418A>T (TTN)	XP_016860310.1:p.Gln33473Leu
XM_017004822.1:c.97460A>T (TTN)	XP_016860311.1:p.Gln32487Leu
XM_017004823.1:c.79076A>T (TTN)	XP_016860312.1:p.Gln26359Leu
XM_024453094.1:c.100571A>T (TTN)	XP_024308862.1:p.Gln33524Leu
XM_024453095.1:c.100568A>T (TTN)	XP_024308863.1:p.Gln33523Leu
XM_024453096.1:c.100001A>T (TTN)	XP_024308864.1:p.Gln33334Leu
XM_024453097.1:c.97343A>T (TTN)	XP_024308865.1:p.Gln32448Leu
XM_024453098.1:c.97262A>T (TTN)	XP_024308866.1:p.Gln32421Leu
XM_024453099.1:c.79025A>T (TTN)	XP_024308867.1:p.Gln26342Leu
XM_024453100.1:c.68879A>T (TTN)	XP_024308868.1:p.Gln22960Leu