Canonical Allele Identifier: CA349471563

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179411494C>G (hg19) ; chr2:g.178546767C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178546767C>G , CM000664.2:g.178546767C>G	GRCh38
NC_000002.11:g.179411494C>G , CM000664.1:g.179411494C>G	GRCh37
NC_000002.10:g.179119740C>G	NCBI36
NG_011618.3:g.289036G>C , LRG_391:g.289036G>C
NG_051363.1:g.28941C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.86957G>C (TTN)	ENSP00000343764.6:p.Gly28986Ala
ENST00000342175.11:c.68042G>C (TTN)	ENSP00000340554.6:p.Gly22681Ala
ENST00000359218.10:c.67841G>C (TTN)	ENSP00000352154.5:p.Gly22614Ala
ENST00000342175.10:c.68042G>C (TTN)	ENSP00000340554.6:p.Gly22681Ala
ENST00000342992.10:c.86957G>C (TTN)	ENSP00000343764.6:p.Gly28986Ala
ENST00000359218.9:c.67841G>C (TTN)	ENSP00000352154.5:p.Gly22614Ala
ENST00000460472.6:c.67466G>C (TTN)	ENSP00000434586.1:p.Gly22489Ala
ENST00000589042.5:c.94661G>C (TTN) MANE Select	ENSP00000467141.1:p.Gly31554Ala
ENST00000591111.5:c.89738G>C (TTN)	ENSP00000465570.1:p.Gly29913Ala
ENST00000615779.4:c.89738G>C (TTN)	ENSP00000483597.1:p.Gly29913Ala
NM_001256850.1:c.89738G>C (TTN)	NP_001243779.1:p.Gly29913Ala
NM_001267550.2:c.94661G>C (TTN) MANE Select	NP_001254479.2:p.Gly31554Ala
NM_003319.4:c.67466G>C (TTN)	NP_003310.4:p.Gly22489Ala
NM_133378.4:c.86957G>C (TTN)	NP_596869.4:p.Gly28986Ala
NM_133432.3:c.67841G>C (TTN)	NP_597676.3:p.Gly22614Ala
NM_133437.4:c.68042G>C (TTN)	NP_597681.4:p.Gly22681Ala
NR_038271.1:n.446+23131C>G (TTN-AS1)
NR_038272.1:n.2043+4406C>G (TTN-AS1)
XM_011511729.1:c.93758G>C (TTN)	XP_011510031.1:p.Gly31253Ala
XM_011511730.1:c.67652G>C (TTN)	XP_011510032.1:p.Gly22551Ala
XM_011511731.1:c.67511G>C (TTN)	XP_011510033.1:p.Gly22504Ala
XM_017004819.1:c.93554G>C (TTN)	XP_016860308.1:p.Gly31185Ala
XM_017004820.1:c.88952G>C (TTN)	XP_016860309.1:p.Gly29651Ala
XM_017004821.1:c.88949G>C (TTN)	XP_016860310.1:p.Gly29650Ala
XM_017004822.1:c.85991G>C (TTN)	XP_016860311.1:p.Gly28664Ala
XM_017004823.1:c.67607G>C (TTN)	XP_016860312.1:p.Gly22536Ala
XM_024453094.1:c.89102G>C (TTN)	XP_024308862.1:p.Gly29701Ala
XM_024453095.1:c.89099G>C (TTN)	XP_024308863.1:p.Gly29700Ala
XM_024453096.1:c.88532G>C (TTN)	XP_024308864.1:p.Gly29511Ala
XM_024453097.1:c.85874G>C (TTN)	XP_024308865.1:p.Gly28625Ala
XM_024453098.1:c.85793G>C (TTN)	XP_024308866.1:p.Gly28598Ala
XM_024453099.1:c.67556G>C (TTN)	XP_024308867.1:p.Gly22519Ala
XM_024453100.1:c.57410G>C (TTN)	XP_024308868.1:p.Gly19137Ala