Canonical Allele Identifier: CA349541159

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179466268G>T (hg19) ; chr2:g.178601541G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178601541G>T , CM000664.2:g.178601541G>T	GRCh38
NC_000002.11:g.179466268G>T , CM000664.1:g.179466268G>T	GRCh37
NC_000002.10:g.179174513G>T	NCBI36
NG_011618.3:g.234262C>A , LRG_391:g.234262C>A
NG_051363.1:g.83715G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.47752C>A (TTN)	ENSP00000343764.6:p.Leu15918Met
ENST00000342175.11:c.28837C>A (TTN)	ENSP00000340554.6:p.Leu9613Met
ENST00000359218.10:c.28636C>A (TTN)	ENSP00000352154.5:p.Leu9546Met
ENST00000342175.10:c.28837C>A (TTN)	ENSP00000340554.6:p.Leu9613Met
ENST00000342992.10:c.47752C>A (TTN)	ENSP00000343764.6:p.Leu15918Met
ENST00000359218.9:c.28636C>A (TTN)	ENSP00000352154.5:p.Leu9546Met
ENST00000460472.6:c.28261C>A (TTN)	ENSP00000434586.1:p.Leu9421Met
ENST00000589042.5:c.55456C>A (TTN) MANE Select	ENSP00000467141.1:p.Leu18486Met
ENST00000591111.5:c.50533C>A (TTN)	ENSP00000465570.1:p.Leu16845Met
ENST00000615779.4:c.50533C>A (TTN)	ENSP00000483597.1:p.Leu16845Met
NM_001256850.1:c.50533C>A (TTN)	NP_001243779.1:p.Leu16845Met
NM_001267550.2:c.55456C>A (TTN) MANE Select	NP_001254479.2:p.Leu18486Met
NM_003319.4:c.28261C>A (TTN)	NP_003310.4:p.Leu9421Met
NM_133378.4:c.47752C>A (TTN)	NP_596869.4:p.Leu15918Met
NM_133432.3:c.28636C>A (TTN)	NP_597676.3:p.Leu9546Met
NM_133437.4:c.28837C>A (TTN)	NP_597681.4:p.Leu9613Met
NR_038271.1:n.682+3860G>T (TTN-AS1)
NR_038272.1:n.3917+874G>T (TTN-AS1)
XM_011511729.1:c.54553C>A (TTN)	XP_011510031.1:p.Leu18185Met
XM_011511730.1:c.28447C>A (TTN)	XP_011510032.1:p.Leu9483Met
XM_011511731.1:c.28306C>A (TTN)	XP_011510033.1:p.Leu9436Met
XM_017004819.1:c.54349C>A (TTN)	XP_016860308.1:p.Leu18117Met
XM_017004820.1:c.49747C>A (TTN)	XP_016860309.1:p.Leu16583Met
XM_017004821.1:c.49744C>A (TTN)	XP_016860310.1:p.Leu16582Met
XM_017004822.1:c.46786C>A (TTN)	XP_016860311.1:p.Leu15596Met
XM_017004823.1:c.28402C>A (TTN)	XP_016860312.1:p.Leu9468Met
XM_024453094.1:c.49897C>A (TTN)	XP_024308862.1:p.Leu16633Met
XM_024453095.1:c.49894C>A (TTN)	XP_024308863.1:p.Leu16632Met
XM_024453096.1:c.49327C>A (TTN)	XP_024308864.1:p.Leu16443Met
XM_024453097.1:c.46669C>A (TTN)	XP_024308865.1:p.Leu15557Met
XM_024453098.1:c.46588C>A (TTN)	XP_024308866.1:p.Leu15530Met
XM_024453099.1:c.28351C>A (TTN)	XP_024308867.1:p.Leu9451Met
XM_024453100.1:c.18205C>A (TTN)	XP_024308868.1:p.Leu6069Met