Canonical Allele Identifier: CA349581128

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179429245T>A (hg19) ; chr2:g.178564518T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178564518T>A , CM000664.2:g.178564518T>A	GRCh38
NC_000002.11:g.179429245T>A , CM000664.1:g.179429245T>A	GRCh37
NC_000002.10:g.179137491T>A	NCBI36
NG_011618.3:g.271285A>T , LRG_391:g.271285A>T
NG_051363.1:g.46692T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.73910A>T (TTN)	ENSP00000343764.6:p.Tyr24637Phe
ENST00000342175.11:c.54995A>T (TTN)	ENSP00000340554.6:p.Tyr18332Phe
ENST00000359218.10:c.54794A>T (TTN)	ENSP00000352154.5:p.Tyr18265Phe
ENST00000342175.10:c.54995A>T (TTN)	ENSP00000340554.6:p.Tyr18332Phe
ENST00000342992.10:c.73910A>T (TTN)	ENSP00000343764.6:p.Tyr24637Phe
ENST00000359218.9:c.54794A>T (TTN)	ENSP00000352154.5:p.Tyr18265Phe
ENST00000460472.6:c.54419A>T (TTN)	ENSP00000434586.1:p.Tyr18140Phe
ENST00000589042.5:c.81614A>T (TTN) MANE Select	ENSP00000467141.1:p.Tyr27205Phe
ENST00000591111.5:c.76691A>T (TTN)	ENSP00000465570.1:p.Tyr25564Phe
ENST00000615779.4:c.76691A>T (TTN)	ENSP00000483597.1:p.Tyr25564Phe
NM_001256850.1:c.76691A>T (TTN)	NP_001243779.1:p.Tyr25564Phe
NM_001267550.2:c.81614A>T (TTN) MANE Select	NP_001254479.2:p.Tyr27205Phe
NM_003319.4:c.54419A>T (TTN)	NP_003310.4:p.Tyr18140Phe
NM_133378.4:c.73910A>T (TTN)	NP_596869.4:p.Tyr24637Phe
NM_133432.3:c.54794A>T (TTN)	NP_597676.3:p.Tyr18265Phe
NM_133437.4:c.54995A>T (TTN)	NP_597681.4:p.Tyr18332Phe
NR_038271.1:n.447-6782T>A (TTN-AS1)
NR_038272.1:n.2044-18054T>A (TTN-AS1)
XM_011511729.1:c.80711A>T (TTN)	XP_011510031.1:p.Tyr26904Phe
XM_011511730.1:c.54605A>T (TTN)	XP_011510032.1:p.Tyr18202Phe
XM_011511731.1:c.54464A>T (TTN)	XP_011510033.1:p.Tyr18155Phe
XM_017004819.1:c.80507A>T (TTN)	XP_016860308.1:p.Tyr26836Phe
XM_017004820.1:c.75905A>T (TTN)	XP_016860309.1:p.Tyr25302Phe
XM_017004821.1:c.75902A>T (TTN)	XP_016860310.1:p.Tyr25301Phe
XM_017004822.1:c.72944A>T (TTN)	XP_016860311.1:p.Tyr24315Phe
XM_017004823.1:c.54560A>T (TTN)	XP_016860312.1:p.Tyr18187Phe
XM_024453094.1:c.76055A>T (TTN)	XP_024308862.1:p.Tyr25352Phe
XM_024453095.1:c.76052A>T (TTN)	XP_024308863.1:p.Tyr25351Phe
XM_024453096.1:c.75485A>T (TTN)	XP_024308864.1:p.Tyr25162Phe
XM_024453097.1:c.72827A>T (TTN)	XP_024308865.1:p.Tyr24276Phe
XM_024453098.1:c.72746A>T (TTN)	XP_024308866.1:p.Tyr24249Phe
XM_024453099.1:c.54509A>T (TTN)	XP_024308867.1:p.Tyr18170Phe
XM_024453100.1:c.44363A>T (TTN)	XP_024308868.1:p.Tyr14788Phe