Canonical Allele Identifier: CA349496315

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179414579C>G (hg19) ; chr2:g.178549852C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178549852C>G , CM000664.2:g.178549852C>G	GRCh38
NC_000002.11:g.179414579C>G , CM000664.1:g.179414579C>G	GRCh37
NC_000002.10:g.179122825C>G	NCBI36
NG_011618.3:g.285951G>C , LRG_391:g.285951G>C
NG_051363.1:g.32026C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.84166G>C (TTN)	ENSP00000343764.6:p.Val28056Leu
ENST00000342175.11:c.65251G>C (TTN)	ENSP00000340554.6:p.Val21751Leu
ENST00000359218.10:c.65050G>C (TTN)	ENSP00000352154.5:p.Val21684Leu
ENST00000342175.10:c.65251G>C (TTN)	ENSP00000340554.6:p.Val21751Leu
ENST00000342992.10:c.84166G>C (TTN)	ENSP00000343764.6:p.Val28056Leu
ENST00000359218.9:c.65050G>C (TTN)	ENSP00000352154.5:p.Val21684Leu
ENST00000460472.6:c.64675G>C (TTN)	ENSP00000434586.1:p.Val21559Leu
ENST00000589042.5:c.91870G>C (TTN) MANE Select	ENSP00000467141.1:p.Val30624Leu
ENST00000591111.5:c.86947G>C (TTN)	ENSP00000465570.1:p.Val28983Leu
ENST00000615779.4:c.86947G>C (TTN)	ENSP00000483597.1:p.Val28983Leu
NM_001256850.1:c.86947G>C (TTN)	NP_001243779.1:p.Val28983Leu
NM_001267550.2:c.91870G>C (TTN) MANE Select	NP_001254479.2:p.Val30624Leu
NM_003319.4:c.64675G>C (TTN)	NP_003310.4:p.Val21559Leu
NM_133378.4:c.84166G>C (TTN)	NP_596869.4:p.Val28056Leu
NM_133432.3:c.65050G>C (TTN)	NP_597676.3:p.Val21684Leu
NM_133437.4:c.65251G>C (TTN)	NP_597681.4:p.Val21751Leu
NR_038271.1:n.447-21448C>G (TTN-AS1)
NR_038272.1:n.2043+7491C>G (TTN-AS1)
XM_011511729.1:c.90967G>C (TTN)	XP_011510031.1:p.Val30323Leu
XM_011511730.1:c.64861G>C (TTN)	XP_011510032.1:p.Val21621Leu
XM_011511731.1:c.64720G>C (TTN)	XP_011510033.1:p.Val21574Leu
XM_017004819.1:c.90763G>C (TTN)	XP_016860308.1:p.Val30255Leu
XM_017004820.1:c.86161G>C (TTN)	XP_016860309.1:p.Val28721Leu
XM_017004821.1:c.86158G>C (TTN)	XP_016860310.1:p.Val28720Leu
XM_017004822.1:c.83200G>C (TTN)	XP_016860311.1:p.Val27734Leu
XM_017004823.1:c.64816G>C (TTN)	XP_016860312.1:p.Val21606Leu
XM_024453094.1:c.86311G>C (TTN)	XP_024308862.1:p.Val28771Leu
XM_024453095.1:c.86308G>C (TTN)	XP_024308863.1:p.Val28770Leu
XM_024453096.1:c.85741G>C (TTN)	XP_024308864.1:p.Val28581Leu
XM_024453097.1:c.83083G>C (TTN)	XP_024308865.1:p.Val27695Leu
XM_024453098.1:c.83002G>C (TTN)	XP_024308866.1:p.Val27668Leu
XM_024453099.1:c.64765G>C (TTN)	XP_024308867.1:p.Val21589Leu
XM_024453100.1:c.54619G>C (TTN)	XP_024308868.1:p.Val18207Leu