Canonical Allele Identifier: CA349621070

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179435188A>G (hg19) ; chr2:g.178570461A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178570461A>G , CM000664.2:g.178570461A>G	GRCh38
NC_000002.11:g.179435188A>G , CM000664.1:g.179435188A>G	GRCh37
NC_000002.10:g.179143434A>G	NCBI36
NG_011618.3:g.265342T>C , LRG_391:g.265342T>C
NG_051363.1:g.52635A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.67967T>C (TTN)	ENSP00000343764.6:p.Leu22656Pro
ENST00000342175.11:c.49052T>C (TTN)	ENSP00000340554.6:p.Leu16351Pro
ENST00000359218.10:c.48851T>C (TTN)	ENSP00000352154.5:p.Leu16284Pro
ENST00000342175.10:c.49052T>C (TTN)	ENSP00000340554.6:p.Leu16351Pro
ENST00000342992.10:c.67967T>C (TTN)	ENSP00000343764.6:p.Leu22656Pro
ENST00000359218.9:c.48851T>C (TTN)	ENSP00000352154.5:p.Leu16284Pro
ENST00000460472.6:c.48476T>C (TTN)	ENSP00000434586.1:p.Leu16159Pro
ENST00000589042.5:c.75671T>C (TTN) MANE Select	ENSP00000467141.1:p.Leu25224Pro
ENST00000591111.5:c.70748T>C (TTN)	ENSP00000465570.1:p.Leu23583Pro
ENST00000615779.4:c.70748T>C (TTN)	ENSP00000483597.1:p.Leu23583Pro
NM_001256850.1:c.70748T>C (TTN)	NP_001243779.1:p.Leu23583Pro
NM_001267550.2:c.75671T>C (TTN) MANE Select	NP_001254479.2:p.Leu25224Pro
NM_003319.4:c.48476T>C (TTN)	NP_003310.4:p.Leu16159Pro
NM_133378.4:c.67967T>C (TTN)	NP_596869.4:p.Leu22656Pro
NM_133432.3:c.48851T>C (TTN)	NP_597676.3:p.Leu16284Pro
NM_133437.4:c.49052T>C (TTN)	NP_597681.4:p.Leu16351Pro
NR_038271.1:n.447-839A>G (TTN-AS1)
NR_038272.1:n.2044-12111A>G (TTN-AS1)
XM_011511729.1:c.74768T>C (TTN)	XP_011510031.1:p.Leu24923Pro
XM_011511730.1:c.48662T>C (TTN)	XP_011510032.1:p.Leu16221Pro
XM_011511731.1:c.48521T>C (TTN)	XP_011510033.1:p.Leu16174Pro
XM_017004819.1:c.74564T>C (TTN)	XP_016860308.1:p.Leu24855Pro
XM_017004820.1:c.69962T>C (TTN)	XP_016860309.1:p.Leu23321Pro
XM_017004821.1:c.69959T>C (TTN)	XP_016860310.1:p.Leu23320Pro
XM_017004822.1:c.67001T>C (TTN)	XP_016860311.1:p.Leu22334Pro
XM_017004823.1:c.48617T>C (TTN)	XP_016860312.1:p.Leu16206Pro
XM_024453094.1:c.70112T>C (TTN)	XP_024308862.1:p.Leu23371Pro
XM_024453095.1:c.70109T>C (TTN)	XP_024308863.1:p.Leu23370Pro
XM_024453096.1:c.69542T>C (TTN)	XP_024308864.1:p.Leu23181Pro
XM_024453097.1:c.66884T>C (TTN)	XP_024308865.1:p.Leu22295Pro
XM_024453098.1:c.66803T>C (TTN)	XP_024308866.1:p.Leu22268Pro
XM_024453099.1:c.48566T>C (TTN)	XP_024308867.1:p.Leu16189Pro
XM_024453100.1:c.38420T>C (TTN)	XP_024308868.1:p.Leu12807Pro