Canonical Allele Identifier: CA349652182

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178574513C>T , CM000664.2:g.178574513C>T	GRCh38
NC_000002.11:g.179439240C>T , CM000664.1:g.179439240C>T	GRCh37
NC_000002.10:g.179147486C>T	NCBI36
NG_011618.3:g.261290G>A , LRG_391:g.261290G>A
NG_051363.1:g.56687C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.71619G>A (TTN) MANE Select	NP_001254479.2:p.Trp23873Ter
ENST00000589042.5:c.71619G>A (TTN) MANE Select	ENSP00000467141.1:p.Trp23873Ter
NM_001256850.1:c.66696G>A (TTN)	NP_001243779.1:p.Trp22232Ter
NM_003319.4:c.44424G>A (TTN)	NP_003310.4:p.Trp14808Ter
NM_133378.4:c.63915G>A (TTN)	NP_596869.4:p.Trp21305Ter
NM_133432.3:c.44799G>A (TTN)	NP_597676.3:p.Trp14933Ter
NM_133437.4:c.45000G>A (TTN)	NP_597681.4:p.Trp15000Ter
NR_038271.1:n.596+3064C>T (TTN-AS1)
NR_038272.1:n.2044-8059C>T (TTN-AS1)
ENST00000342175.10:c.45000G>A (TTN)	ENSP00000340554.6:p.Trp15000Ter
ENST00000342175.11:c.45000G>A (TTN)	ENSP00000340554.6:p.Trp15000Ter
ENST00000342992.10:c.63915G>A (TTN)	ENSP00000343764.6:p.Trp21305Ter
ENST00000342992.11:c.63915G>A (TTN)	ENSP00000343764.6:p.Trp21305Ter
ENST00000359218.10:c.44799G>A (TTN)	ENSP00000352154.5:p.Trp14933Ter
ENST00000359218.9:c.44799G>A (TTN)	ENSP00000352154.5:p.Trp14933Ter
ENST00000460472.6:c.44424G>A (TTN)	ENSP00000434586.1:p.Trp14808Ter
ENST00000591111.5:c.66696G>A (TTN)	ENSP00000465570.1:p.Trp22232Ter
ENST00000615779.4:c.66696G>A (TTN)	ENSP00000483597.1:p.Trp22232Ter
XM_011511729.1:c.70716G>A (TTN)	XP_011510031.1:p.Trp23572Ter
XM_011511730.1:c.44610G>A (TTN)	XP_011510032.1:p.Trp14870Ter
XM_011511731.1:c.44469G>A (TTN)	XP_011510033.1:p.Trp14823Ter
XM_017004819.1:c.70512G>A (TTN)	XP_016860308.1:p.Trp23504Ter
XM_017004820.1:c.65910G>A (TTN)	XP_016860309.1:p.Trp21970Ter
XM_017004821.1:c.65907G>A (TTN)	XP_016860310.1:p.Trp21969Ter
XM_017004822.1:c.62949G>A (TTN)	XP_016860311.1:p.Trp20983Ter
XM_017004823.1:c.44565G>A (TTN)	XP_016860312.1:p.Trp14855Ter
XM_024453094.1:c.66060G>A (TTN)	XP_024308862.1:p.Trp22020Ter
XM_024453095.1:c.66057G>A (TTN)	XP_024308863.1:p.Trp22019Ter
XM_024453096.1:c.65490G>A (TTN)	XP_024308864.1:p.Trp21830Ter
XM_024453097.1:c.62832G>A (TTN)	XP_024308865.1:p.Trp20944Ter
XM_024453098.1:c.62751G>A (TTN)	XP_024308866.1:p.Trp20917Ter
XM_024453099.1:c.44514G>A (TTN)	XP_024308867.1:p.Trp14838Ter
XM_024453100.1:c.34368G>A (TTN)	XP_024308868.1:p.Trp11456Ter