Canonical Allele Identifier: CA349611915

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179433655A>G (hg19) ; chr2:g.178568928A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178568928A>G , CM000664.2:g.178568928A>G	GRCh38
NC_000002.11:g.179433655A>G , CM000664.1:g.179433655A>G	GRCh37
NC_000002.10:g.179141901A>G	NCBI36
NG_011618.3:g.266875T>C , LRG_391:g.266875T>C
NG_051363.1:g.51102A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.69500T>C (TTN)	ENSP00000343764.6:p.Val23167Ala
ENST00000342175.11:c.50585T>C (TTN)	ENSP00000340554.6:p.Val16862Ala
ENST00000359218.10:c.50384T>C (TTN)	ENSP00000352154.5:p.Val16795Ala
ENST00000342175.10:c.50585T>C (TTN)	ENSP00000340554.6:p.Val16862Ala
ENST00000342992.10:c.69500T>C (TTN)	ENSP00000343764.6:p.Val23167Ala
ENST00000359218.9:c.50384T>C (TTN)	ENSP00000352154.5:p.Val16795Ala
ENST00000460472.6:c.50009T>C (TTN)	ENSP00000434586.1:p.Val16670Ala
ENST00000589042.5:c.77204T>C (TTN) MANE Select	ENSP00000467141.1:p.Val25735Ala
ENST00000591111.5:c.72281T>C (TTN)	ENSP00000465570.1:p.Val24094Ala
ENST00000615779.4:c.72281T>C (TTN)	ENSP00000483597.1:p.Val24094Ala
NM_001256850.1:c.72281T>C (TTN)	NP_001243779.1:p.Val24094Ala
NM_001267550.2:c.77204T>C (TTN) MANE Select	NP_001254479.2:p.Val25735Ala
NM_003319.4:c.50009T>C (TTN)	NP_003310.4:p.Val16670Ala
NM_133378.4:c.69500T>C (TTN)	NP_596869.4:p.Val23167Ala
NM_133432.3:c.50384T>C (TTN)	NP_597676.3:p.Val16795Ala
NM_133437.4:c.50585T>C (TTN)	NP_597681.4:p.Val16862Ala
NR_038271.1:n.447-2372A>G (TTN-AS1)
NR_038272.1:n.2044-13644A>G (TTN-AS1)
XM_011511729.1:c.76301T>C (TTN)	XP_011510031.1:p.Val25434Ala
XM_011511730.1:c.50195T>C (TTN)	XP_011510032.1:p.Val16732Ala
XM_011511731.1:c.50054T>C (TTN)	XP_011510033.1:p.Val16685Ala
XM_017004819.1:c.76097T>C (TTN)	XP_016860308.1:p.Val25366Ala
XM_017004820.1:c.71495T>C (TTN)	XP_016860309.1:p.Val23832Ala
XM_017004821.1:c.71492T>C (TTN)	XP_016860310.1:p.Val23831Ala
XM_017004822.1:c.68534T>C (TTN)	XP_016860311.1:p.Val22845Ala
XM_017004823.1:c.50150T>C (TTN)	XP_016860312.1:p.Val16717Ala
XM_024453094.1:c.71645T>C (TTN)	XP_024308862.1:p.Val23882Ala
XM_024453095.1:c.71642T>C (TTN)	XP_024308863.1:p.Val23881Ala
XM_024453096.1:c.71075T>C (TTN)	XP_024308864.1:p.Val23692Ala
XM_024453097.1:c.68417T>C (TTN)	XP_024308865.1:p.Val22806Ala
XM_024453098.1:c.68336T>C (TTN)	XP_024308866.1:p.Val22779Ala
XM_024453099.1:c.50099T>C (TTN)	XP_024308867.1:p.Val16700Ala
XM_024453100.1:c.39953T>C (TTN)	XP_024308868.1:p.Val13318Ala