Canonical Allele Identifier: CA349446408

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179408074A>T (hg19) ; chr2:g.178543347A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543347A>T , CM000664.2:g.178543347A>T	GRCh38
NC_000002.11:g.179408074A>T , CM000664.1:g.179408074A>T	GRCh37
NC_000002.10:g.179116320A>T	NCBI36
NG_011618.3:g.292456T>A , LRG_391:g.292456T>A
NG_051363.1:g.25521A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88922T>A (TTN)	ENSP00000343764.6:p.Leu29641Gln
ENST00000342175.11:c.70007T>A (TTN)	ENSP00000340554.6:p.Leu23336Gln
ENST00000359218.10:c.69806T>A (TTN)	ENSP00000352154.5:p.Leu23269Gln
ENST00000342175.10:c.70007T>A (TTN)	ENSP00000340554.6:p.Leu23336Gln
ENST00000342992.10:c.88922T>A (TTN)	ENSP00000343764.6:p.Leu29641Gln
ENST00000359218.9:c.69806T>A (TTN)	ENSP00000352154.5:p.Leu23269Gln
ENST00000460472.6:c.69431T>A (TTN)	ENSP00000434586.1:p.Leu23144Gln
ENST00000589042.5:c.96626T>A (TTN) MANE Select	ENSP00000467141.1:p.Leu32209Gln
ENST00000591111.5:c.91703T>A (TTN)	ENSP00000465570.1:p.Leu30568Gln
ENST00000615779.4:c.91703T>A (TTN)	ENSP00000483597.1:p.Leu30568Gln
NM_001256850.1:c.91703T>A (TTN)	NP_001243779.1:p.Leu30568Gln
NM_001267550.2:c.96626T>A (TTN) MANE Select	NP_001254479.2:p.Leu32209Gln
NM_003319.4:c.69431T>A (TTN)	NP_003310.4:p.Leu23144Gln
NM_133378.4:c.88922T>A (TTN)	NP_596869.4:p.Leu29641Gln
NM_133432.3:c.69806T>A (TTN)	NP_597676.3:p.Leu23269Gln
NM_133437.4:c.70007T>A (TTN)	NP_597681.4:p.Leu23336Gln
NR_038271.1:n.446+19711A>T (TTN-AS1)
NR_038272.1:n.2043+986A>T (TTN-AS1)
XM_011511729.1:c.95723T>A (TTN)	XP_011510031.1:p.Leu31908Gln
XM_011511730.1:c.69617T>A (TTN)	XP_011510032.1:p.Leu23206Gln
XM_011511731.1:c.69476T>A (TTN)	XP_011510033.1:p.Leu23159Gln
XM_017004819.1:c.95519T>A (TTN)	XP_016860308.1:p.Leu31840Gln
XM_017004820.1:c.90917T>A (TTN)	XP_016860309.1:p.Leu30306Gln
XM_017004821.1:c.90914T>A (TTN)	XP_016860310.1:p.Leu30305Gln
XM_017004822.1:c.87956T>A (TTN)	XP_016860311.1:p.Leu29319Gln
XM_017004823.1:c.69572T>A (TTN)	XP_016860312.1:p.Leu23191Gln
XM_024453094.1:c.91067T>A (TTN)	XP_024308862.1:p.Leu30356Gln
XM_024453095.1:c.91064T>A (TTN)	XP_024308863.1:p.Leu30355Gln
XM_024453096.1:c.90497T>A (TTN)	XP_024308864.1:p.Leu30166Gln
XM_024453097.1:c.87839T>A (TTN)	XP_024308865.1:p.Leu29280Gln
XM_024453098.1:c.87758T>A (TTN)	XP_024308866.1:p.Leu29253Gln
XM_024453099.1:c.69521T>A (TTN)	XP_024308867.1:p.Leu23174Gln
XM_024453100.1:c.59375T>A (TTN)	XP_024308868.1:p.Leu19792Gln