Canonical Allele Identifier: CA349545183

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179467057A>T (hg19) ; chr2:g.178602330A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178602330A>T , CM000664.2:g.178602330A>T	GRCh38
NC_000002.11:g.179467057A>T , CM000664.1:g.179467057A>T	GRCh37
NC_000002.10:g.179175302A>T	NCBI36
NG_011618.3:g.233473T>A , LRG_391:g.233473T>A
NG_051363.1:g.84504A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.47368T>A (TTN)	ENSP00000343764.6:p.Ser15790Thr
ENST00000342175.11:c.28453T>A (TTN)	ENSP00000340554.6:p.Ser9485Thr
ENST00000359218.10:c.28252T>A (TTN)	ENSP00000352154.5:p.Ser9418Thr
ENST00000342175.10:c.28453T>A (TTN)	ENSP00000340554.6:p.Ser9485Thr
ENST00000342992.10:c.47368T>A (TTN)	ENSP00000343764.6:p.Ser15790Thr
ENST00000359218.9:c.28252T>A (TTN)	ENSP00000352154.5:p.Ser9418Thr
ENST00000460472.6:c.27877T>A (TTN)	ENSP00000434586.1:p.Ser9293Thr
ENST00000589042.5:c.55072T>A (TTN) MANE Select	ENSP00000467141.1:p.Ser18358Thr
ENST00000591111.5:c.50149T>A (TTN)	ENSP00000465570.1:p.Ser16717Thr
ENST00000615779.4:c.50149T>A (TTN)	ENSP00000483597.1:p.Ser16717Thr
NM_001256850.1:c.50149T>A (TTN)	NP_001243779.1:p.Ser16717Thr
NM_001267550.2:c.55072T>A (TTN) MANE Select	NP_001254479.2:p.Ser18358Thr
NM_003319.4:c.27877T>A (TTN)	NP_003310.4:p.Ser9293Thr
NM_133378.4:c.47368T>A (TTN)	NP_596869.4:p.Ser15790Thr
NM_133432.3:c.28252T>A (TTN)	NP_597676.3:p.Ser9418Thr
NM_133437.4:c.28453T>A (TTN)	NP_597681.4:p.Ser9485Thr
NR_038271.1:n.682+4649A>T (TTN-AS1)
NR_038272.1:n.3917+1663A>T (TTN-AS1)
XM_011511729.1:c.54169T>A (TTN)	XP_011510031.1:p.Ser18057Thr
XM_011511730.1:c.28063T>A (TTN)	XP_011510032.1:p.Ser9355Thr
XM_011511731.1:c.27922T>A (TTN)	XP_011510033.1:p.Ser9308Thr
XM_017004819.1:c.53965T>A (TTN)	XP_016860308.1:p.Ser17989Thr
XM_017004820.1:c.49363T>A (TTN)	XP_016860309.1:p.Ser16455Thr
XM_017004821.1:c.49360T>A (TTN)	XP_016860310.1:p.Ser16454Thr
XM_017004822.1:c.46402T>A (TTN)	XP_016860311.1:p.Ser15468Thr
XM_017004823.1:c.28018T>A (TTN)	XP_016860312.1:p.Ser9340Thr
XM_024453094.1:c.49513T>A (TTN)	XP_024308862.1:p.Ser16505Thr
XM_024453095.1:c.49510T>A (TTN)	XP_024308863.1:p.Ser16504Thr
XM_024453096.1:c.48943T>A (TTN)	XP_024308864.1:p.Ser16315Thr
XM_024453097.1:c.46285T>A (TTN)	XP_024308865.1:p.Ser15429Thr
XM_024453098.1:c.46204T>A (TTN)	XP_024308866.1:p.Ser15402Thr
XM_024453099.1:c.27967T>A (TTN)	XP_024308867.1:p.Ser9323Thr
XM_024453100.1:c.17821T>A (TTN)	XP_024308868.1:p.Ser5941Thr