Canonical Allele Identifier: CA349407281

Gene: TTN TTN-AS1

Linked Data

• COSMIC: COSM5474369 ; COSM5474370 ; COSM5474371 ; COSM5474372
• MyVariant Identifiers: chr2:g.179395354C>T (hg19) ; chr2:g.178530627C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530627C>T , CM000664.2:g.178530627C>T	GRCh38
NC_000002.11:g.179395354C>T , CM000664.1:g.179395354C>T	GRCh37
NC_000002.10:g.179103600C>T	NCBI36
NG_011618.3:g.305176G>A , LRG_391:g.305176G>A
NG_051363.1:g.12801C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98284G>A (TTN)	ENSP00000343764.6:p.Gly32762Arg
ENST00000342175.11:c.79369G>A (TTN)	ENSP00000340554.6:p.Gly26457Arg
ENST00000359218.10:c.79168G>A (TTN)	ENSP00000352154.5:p.Gly26390Arg
ENST00000342175.10:c.79369G>A (TTN)	ENSP00000340554.6:p.Gly26457Arg
ENST00000342992.10:c.98284G>A (TTN)	ENSP00000343764.6:p.Gly32762Arg
ENST00000359218.9:c.79168G>A (TTN)	ENSP00000352154.5:p.Gly26390Arg
ENST00000460472.6:c.78793G>A (TTN)	ENSP00000434586.1:p.Gly26265Arg
ENST00000589042.5:c.105988G>A (TTN) MANE Select	ENSP00000467141.1:p.Gly35330Arg
ENST00000591111.5:c.101065G>A (TTN)	ENSP00000465570.1:p.Gly33689Arg
ENST00000615779.4:c.101065G>A (TTN)	ENSP00000483597.1:p.Gly33689Arg
NM_001256850.1:c.101065G>A (TTN)	NP_001243779.1:p.Gly33689Arg
NM_001267550.2:c.105988G>A (TTN) MANE Select	NP_001254479.2:p.Gly35330Arg
NM_003319.4:c.78793G>A (TTN)	NP_003310.4:p.Gly26265Arg
NM_133378.4:c.98284G>A (TTN)	NP_596869.4:p.Gly32762Arg
NM_133432.3:c.79168G>A (TTN)	NP_597676.3:p.Gly26390Arg
NM_133437.4:c.79369G>A (TTN)	NP_597681.4:p.Gly26457Arg
NR_038271.1:n.446+6991C>T (TTN-AS1)
NR_038272.1:n.220-5105C>T (TTN-AS1)
XM_011511729.1:c.105085G>A (TTN)	XP_011510031.1:p.Gly35029Arg
XM_011511730.1:c.78979G>A (TTN)	XP_011510032.1:p.Gly26327Arg
XM_011511731.1:c.78838G>A (TTN)	XP_011510033.1:p.Gly26280Arg
XM_017004819.1:c.104881G>A (TTN)	XP_016860308.1:p.Gly34961Arg
XM_017004820.1:c.100279G>A (TTN)	XP_016860309.1:p.Gly33427Arg
XM_017004821.1:c.100276G>A (TTN)	XP_016860310.1:p.Gly33426Arg
XM_017004822.1:c.97318G>A (TTN)	XP_016860311.1:p.Gly32440Arg
XM_017004823.1:c.78934G>A (TTN)	XP_016860312.1:p.Gly26312Arg
XM_024453094.1:c.100429G>A (TTN)	XP_024308862.1:p.Gly33477Arg
XM_024453095.1:c.100426G>A (TTN)	XP_024308863.1:p.Gly33476Arg
XM_024453096.1:c.99859G>A (TTN)	XP_024308864.1:p.Gly33287Arg
XM_024453097.1:c.97201G>A (TTN)	XP_024308865.1:p.Gly32401Arg
XM_024453098.1:c.97120G>A (TTN)	XP_024308866.1:p.Gly32374Arg
XM_024453099.1:c.78883G>A (TTN)	XP_024308867.1:p.Gly26295Arg
XM_024453100.1:c.68737G>A (TTN)	XP_024308868.1:p.Gly22913Arg