Canonical Allele Identifier: CA349658717

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179439623A>C (hg19) ; chr2:g.178574896A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178574896A>C , CM000664.2:g.178574896A>C	GRCh38
NC_000002.11:g.179439623A>C , CM000664.1:g.179439623A>C	GRCh37
NC_000002.10:g.179147869A>C	NCBI36
NG_011618.3:g.260907T>G , LRG_391:g.260907T>G
NG_051363.1:g.57070A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.63532T>G (TTN)	ENSP00000343764.6:p.Phe21178Val
ENST00000342175.11:c.44617T>G (TTN)	ENSP00000340554.6:p.Phe14873Val
ENST00000359218.10:c.44416T>G (TTN)	ENSP00000352154.5:p.Phe14806Val
ENST00000342175.10:c.44617T>G (TTN)	ENSP00000340554.6:p.Phe14873Val
ENST00000342992.10:c.63532T>G (TTN)	ENSP00000343764.6:p.Phe21178Val
ENST00000359218.9:c.44416T>G (TTN)	ENSP00000352154.5:p.Phe14806Val
ENST00000460472.6:c.44041T>G (TTN)	ENSP00000434586.1:p.Phe14681Val
ENST00000589042.5:c.71236T>G (TTN) MANE Select	ENSP00000467141.1:p.Phe23746Val
ENST00000591111.5:c.66313T>G (TTN)	ENSP00000465570.1:p.Phe22105Val
ENST00000615779.4:c.66313T>G (TTN)	ENSP00000483597.1:p.Phe22105Val
NM_001256850.1:c.66313T>G (TTN)	NP_001243779.1:p.Phe22105Val
NM_001267550.2:c.71236T>G (TTN) MANE Select	NP_001254479.2:p.Phe23746Val
NM_003319.4:c.44041T>G (TTN)	NP_003310.4:p.Phe14681Val
NM_133378.4:c.63532T>G (TTN)	NP_596869.4:p.Phe21178Val
NM_133432.3:c.44416T>G (TTN)	NP_597676.3:p.Phe14806Val
NM_133437.4:c.44617T>G (TTN)	NP_597681.4:p.Phe14873Val
NR_038271.1:n.596+3447A>C (TTN-AS1)
NR_038272.1:n.2044-7676A>C (TTN-AS1)
XM_011511729.1:c.70333T>G (TTN)	XP_011510031.1:p.Phe23445Val
XM_011511730.1:c.44227T>G (TTN)	XP_011510032.1:p.Phe14743Val
XM_011511731.1:c.44086T>G (TTN)	XP_011510033.1:p.Phe14696Val
XM_017004819.1:c.70129T>G (TTN)	XP_016860308.1:p.Phe23377Val
XM_017004820.1:c.65527T>G (TTN)	XP_016860309.1:p.Phe21843Val
XM_017004821.1:c.65524T>G (TTN)	XP_016860310.1:p.Phe21842Val
XM_017004822.1:c.62566T>G (TTN)	XP_016860311.1:p.Phe20856Val
XM_017004823.1:c.44182T>G (TTN)	XP_016860312.1:p.Phe14728Val
XM_024453094.1:c.65677T>G (TTN)	XP_024308862.1:p.Phe21893Val
XM_024453095.1:c.65674T>G (TTN)	XP_024308863.1:p.Phe21892Val
XM_024453096.1:c.65107T>G (TTN)	XP_024308864.1:p.Phe21703Val
XM_024453097.1:c.62449T>G (TTN)	XP_024308865.1:p.Phe20817Val
XM_024453098.1:c.62368T>G (TTN)	XP_024308866.1:p.Phe20790Val
XM_024453099.1:c.44131T>G (TTN)	XP_024308867.1:p.Phe14711Val
XM_024453100.1:c.33985T>G (TTN)	XP_024308868.1:p.Phe11329Val