Canonical Allele Identifier: CA349621111

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179435192T>G (hg19) ; chr2:g.178570465T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178570465T>G , CM000664.2:g.178570465T>G	GRCh38
NC_000002.11:g.179435192T>G , CM000664.1:g.179435192T>G	GRCh37
NC_000002.10:g.179143438T>G	NCBI36
NG_011618.3:g.265338A>C , LRG_391:g.265338A>C
NG_051363.1:g.52639T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.67963A>C (TTN)	ENSP00000343764.6:p.Thr22655Pro
ENST00000342175.11:c.49048A>C (TTN)	ENSP00000340554.6:p.Thr16350Pro
ENST00000359218.10:c.48847A>C (TTN)	ENSP00000352154.5:p.Thr16283Pro
ENST00000342175.10:c.49048A>C (TTN)	ENSP00000340554.6:p.Thr16350Pro
ENST00000342992.10:c.67963A>C (TTN)	ENSP00000343764.6:p.Thr22655Pro
ENST00000359218.9:c.48847A>C (TTN)	ENSP00000352154.5:p.Thr16283Pro
ENST00000460472.6:c.48472A>C (TTN)	ENSP00000434586.1:p.Thr16158Pro
ENST00000589042.5:c.75667A>C (TTN) MANE Select	ENSP00000467141.1:p.Thr25223Pro
ENST00000591111.5:c.70744A>C (TTN)	ENSP00000465570.1:p.Thr23582Pro
ENST00000615779.4:c.70744A>C (TTN)	ENSP00000483597.1:p.Thr23582Pro
NM_001256850.1:c.70744A>C (TTN)	NP_001243779.1:p.Thr23582Pro
NM_001267550.2:c.75667A>C (TTN) MANE Select	NP_001254479.2:p.Thr25223Pro
NM_003319.4:c.48472A>C (TTN)	NP_003310.4:p.Thr16158Pro
NM_133378.4:c.67963A>C (TTN)	NP_596869.4:p.Thr22655Pro
NM_133432.3:c.48847A>C (TTN)	NP_597676.3:p.Thr16283Pro
NM_133437.4:c.49048A>C (TTN)	NP_597681.4:p.Thr16350Pro
NR_038271.1:n.447-835T>G (TTN-AS1)
NR_038272.1:n.2044-12107T>G (TTN-AS1)
XM_011511729.1:c.74764A>C (TTN)	XP_011510031.1:p.Thr24922Pro
XM_011511730.1:c.48658A>C (TTN)	XP_011510032.1:p.Thr16220Pro
XM_011511731.1:c.48517A>C (TTN)	XP_011510033.1:p.Thr16173Pro
XM_017004819.1:c.74560A>C (TTN)	XP_016860308.1:p.Thr24854Pro
XM_017004820.1:c.69958A>C (TTN)	XP_016860309.1:p.Thr23320Pro
XM_017004821.1:c.69955A>C (TTN)	XP_016860310.1:p.Thr23319Pro
XM_017004822.1:c.66997A>C (TTN)	XP_016860311.1:p.Thr22333Pro
XM_017004823.1:c.48613A>C (TTN)	XP_016860312.1:p.Thr16205Pro
XM_024453094.1:c.70108A>C (TTN)	XP_024308862.1:p.Thr23370Pro
XM_024453095.1:c.70105A>C (TTN)	XP_024308863.1:p.Thr23369Pro
XM_024453096.1:c.69538A>C (TTN)	XP_024308864.1:p.Thr23180Pro
XM_024453097.1:c.66880A>C (TTN)	XP_024308865.1:p.Thr22294Pro
XM_024453098.1:c.66799A>C (TTN)	XP_024308866.1:p.Thr22267Pro
XM_024453099.1:c.48562A>C (TTN)	XP_024308867.1:p.Thr16188Pro
XM_024453100.1:c.38416A>C (TTN)	XP_024308868.1:p.Thr12806Pro