Canonical Allele Identifier: CA1993423

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178601378A>G , CM000664.2:g.178601378A>G	GRCh38
NC_000002.11:g.179466105A>G , CM000664.1:g.179466105A>G	GRCh37
NC_000002.10:g.179174350A>G	NCBI36
NG_011618.3:g.234425T>C , LRG_391:g.234425T>C
NG_051363.1:g.83552A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.55619T>C (TTN) MANE Select	NP_001254479.2:p.Val18540Ala
ENST00000589042.5:c.55619T>C (TTN) MANE Select	ENSP00000467141.1:p.Val18540Ala
NM_001256850.1:c.50696T>C (TTN)	NP_001243779.1:p.Val16899Ala
NM_003319.4:c.28424T>C (TTN)	NP_003310.4:p.Val9475Ala
NM_133378.4:c.47915T>C (TTN)	NP_596869.4:p.Val15972Ala
NM_133432.3:c.28799T>C (TTN)	NP_597676.3:p.Val9600Ala
NM_133437.4:c.29000T>C (TTN)	NP_597681.4:p.Val9667Ala
NR_038271.1:n.682+3697A>G (TTN-AS1)
NR_038272.1:n.3917+711A>G (TTN-AS1)
ENST00000342175.10:c.29000T>C (TTN)	ENSP00000340554.6:p.Val9667Ala
ENST00000342175.11:c.29000T>C (TTN)	ENSP00000340554.6:p.Val9667Ala
ENST00000342992.10:c.47915T>C (TTN)	ENSP00000343764.6:p.Val15972Ala
ENST00000342992.11:c.47915T>C (TTN)	ENSP00000343764.6:p.Val15972Ala
ENST00000359218.10:c.28799T>C (TTN)	ENSP00000352154.5:p.Val9600Ala
ENST00000359218.9:c.28799T>C (TTN)	ENSP00000352154.5:p.Val9600Ala
ENST00000460472.6:c.28424T>C (TTN)	ENSP00000434586.1:p.Val9475Ala
ENST00000591111.5:c.50696T>C (TTN)	ENSP00000465570.1:p.Val16899Ala
ENST00000615779.4:c.50696T>C (TTN)	ENSP00000483597.1:p.Val16899Ala
XM_011511729.1:c.54716T>C (TTN)	XP_011510031.1:p.Val18239Ala
XM_011511730.1:c.28610T>C (TTN)	XP_011510032.1:p.Val9537Ala
XM_011511731.1:c.28469T>C (TTN)	XP_011510033.1:p.Val9490Ala
XM_017004819.1:c.54512T>C (TTN)	XP_016860308.1:p.Val18171Ala
XM_017004820.1:c.49910T>C (TTN)	XP_016860309.1:p.Val16637Ala
XM_017004821.1:c.49907T>C (TTN)	XP_016860310.1:p.Val16636Ala
XM_017004822.1:c.46949T>C (TTN)	XP_016860311.1:p.Val15650Ala
XM_017004823.1:c.28565T>C (TTN)	XP_016860312.1:p.Val9522Ala
XM_024453094.1:c.50060T>C (TTN)	XP_024308862.1:p.Val16687Ala
XM_024453095.1:c.50057T>C (TTN)	XP_024308863.1:p.Val16686Ala
XM_024453096.1:c.49490T>C (TTN)	XP_024308864.1:p.Val16497Ala
XM_024453097.1:c.46832T>C (TTN)	XP_024308865.1:p.Val15611Ala
XM_024453098.1:c.46751T>C (TTN)	XP_024308866.1:p.Val15584Ala
XM_024453099.1:c.28514T>C (TTN)	XP_024308867.1:p.Val9505Ala
XM_024453100.1:c.18368T>C (TTN)	XP_024308868.1:p.Val6123Ala