Canonical Allele Identifier: CA349628151

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178570942-T-G
• MyVariant Identifiers: chr2:g.179435669T>G (hg19) ; chr2:g.178570942T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178570942T>G , CM000664.2:g.178570942T>G	GRCh38
NC_000002.11:g.179435669T>G , CM000664.1:g.179435669T>G	GRCh37
NC_000002.10:g.179143915T>G	NCBI36
NG_011618.3:g.264861A>C , LRG_391:g.264861A>C
NG_051363.1:g.53116T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.67486A>C (TTN)	ENSP00000343764.6:p.Thr22496Pro
ENST00000342175.11:c.48571A>C (TTN)	ENSP00000340554.6:p.Thr16191Pro
ENST00000359218.10:c.48370A>C (TTN)	ENSP00000352154.5:p.Thr16124Pro
ENST00000342175.10:c.48571A>C (TTN)	ENSP00000340554.6:p.Thr16191Pro
ENST00000342992.10:c.67486A>C (TTN)	ENSP00000343764.6:p.Thr22496Pro
ENST00000359218.9:c.48370A>C (TTN)	ENSP00000352154.5:p.Thr16124Pro
ENST00000460472.6:c.47995A>C (TTN)	ENSP00000434586.1:p.Thr15999Pro
ENST00000589042.5:c.75190A>C (TTN) MANE Select	ENSP00000467141.1:p.Thr25064Pro
ENST00000591111.5:c.70267A>C (TTN)	ENSP00000465570.1:p.Thr23423Pro
ENST00000615779.4:c.70267A>C (TTN)	ENSP00000483597.1:p.Thr23423Pro
NM_001256850.1:c.70267A>C (TTN)	NP_001243779.1:p.Thr23423Pro
NM_001267550.2:c.75190A>C (TTN) MANE Select	NP_001254479.2:p.Thr25064Pro
NM_003319.4:c.47995A>C (TTN)	NP_003310.4:p.Thr15999Pro
NM_133378.4:c.67486A>C (TTN)	NP_596869.4:p.Thr22496Pro
NM_133432.3:c.48370A>C (TTN)	NP_597676.3:p.Thr16124Pro
NM_133437.4:c.48571A>C (TTN)	NP_597681.4:p.Thr16191Pro
NR_038271.1:n.447-358T>G (TTN-AS1)
NR_038272.1:n.2044-11630T>G (TTN-AS1)
XM_011511729.1:c.74287A>C (TTN)	XP_011510031.1:p.Thr24763Pro
XM_011511730.1:c.48181A>C (TTN)	XP_011510032.1:p.Thr16061Pro
XM_011511731.1:c.48040A>C (TTN)	XP_011510033.1:p.Thr16014Pro
XM_017004819.1:c.74083A>C (TTN)	XP_016860308.1:p.Thr24695Pro
XM_017004820.1:c.69481A>C (TTN)	XP_016860309.1:p.Thr23161Pro
XM_017004821.1:c.69478A>C (TTN)	XP_016860310.1:p.Thr23160Pro
XM_017004822.1:c.66520A>C (TTN)	XP_016860311.1:p.Thr22174Pro
XM_017004823.1:c.48136A>C (TTN)	XP_016860312.1:p.Thr16046Pro
XM_024453094.1:c.69631A>C (TTN)	XP_024308862.1:p.Thr23211Pro
XM_024453095.1:c.69628A>C (TTN)	XP_024308863.1:p.Thr23210Pro
XM_024453096.1:c.69061A>C (TTN)	XP_024308864.1:p.Thr23021Pro
XM_024453097.1:c.66403A>C (TTN)	XP_024308865.1:p.Thr22135Pro
XM_024453098.1:c.66322A>C (TTN)	XP_024308866.1:p.Thr22108Pro
XM_024453099.1:c.48085A>C (TTN)	XP_024308867.1:p.Thr16029Pro
XM_024453100.1:c.37939A>C (TTN)	XP_024308868.1:p.Thr12647Pro