Canonical Allele Identifier: CA349446178

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179408044A>T (hg19) ; chr2:g.178543317A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543317A>T , CM000664.2:g.178543317A>T	GRCh38
NC_000002.11:g.179408044A>T , CM000664.1:g.179408044A>T	GRCh37
NC_000002.10:g.179116290A>T	NCBI36
NG_011618.3:g.292486T>A , LRG_391:g.292486T>A
NG_051363.1:g.25491A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88952T>A (TTN)	ENSP00000343764.6:p.Val29651Asp
ENST00000342175.11:c.70037T>A (TTN)	ENSP00000340554.6:p.Val23346Asp
ENST00000359218.10:c.69836T>A (TTN)	ENSP00000352154.5:p.Val23279Asp
ENST00000342175.10:c.70037T>A (TTN)	ENSP00000340554.6:p.Val23346Asp
ENST00000342992.10:c.88952T>A (TTN)	ENSP00000343764.6:p.Val29651Asp
ENST00000359218.9:c.69836T>A (TTN)	ENSP00000352154.5:p.Val23279Asp
ENST00000460472.6:c.69461T>A (TTN)	ENSP00000434586.1:p.Val23154Asp
ENST00000589042.5:c.96656T>A (TTN) MANE Select	ENSP00000467141.1:p.Val32219Asp
ENST00000591111.5:c.91733T>A (TTN)	ENSP00000465570.1:p.Val30578Asp
ENST00000615779.4:c.91733T>A (TTN)	ENSP00000483597.1:p.Val30578Asp
NM_001256850.1:c.91733T>A (TTN)	NP_001243779.1:p.Val30578Asp
NM_001267550.2:c.96656T>A (TTN) MANE Select	NP_001254479.2:p.Val32219Asp
NM_003319.4:c.69461T>A (TTN)	NP_003310.4:p.Val23154Asp
NM_133378.4:c.88952T>A (TTN)	NP_596869.4:p.Val29651Asp
NM_133432.3:c.69836T>A (TTN)	NP_597676.3:p.Val23279Asp
NM_133437.4:c.70037T>A (TTN)	NP_597681.4:p.Val23346Asp
NR_038271.1:n.446+19681A>T (TTN-AS1)
NR_038272.1:n.2043+956A>T (TTN-AS1)
XM_011511729.1:c.95753T>A (TTN)	XP_011510031.1:p.Val31918Asp
XM_011511730.1:c.69647T>A (TTN)	XP_011510032.1:p.Val23216Asp
XM_011511731.1:c.69506T>A (TTN)	XP_011510033.1:p.Val23169Asp
XM_017004819.1:c.95549T>A (TTN)	XP_016860308.1:p.Val31850Asp
XM_017004820.1:c.90947T>A (TTN)	XP_016860309.1:p.Val30316Asp
XM_017004821.1:c.90944T>A (TTN)	XP_016860310.1:p.Val30315Asp
XM_017004822.1:c.87986T>A (TTN)	XP_016860311.1:p.Val29329Asp
XM_017004823.1:c.69602T>A (TTN)	XP_016860312.1:p.Val23201Asp
XM_024453094.1:c.91097T>A (TTN)	XP_024308862.1:p.Val30366Asp
XM_024453095.1:c.91094T>A (TTN)	XP_024308863.1:p.Val30365Asp
XM_024453096.1:c.90527T>A (TTN)	XP_024308864.1:p.Val30176Asp
XM_024453097.1:c.87869T>A (TTN)	XP_024308865.1:p.Val29290Asp
XM_024453098.1:c.87788T>A (TTN)	XP_024308866.1:p.Val29263Asp
XM_024453099.1:c.69551T>A (TTN)	XP_024308867.1:p.Val23184Asp
XM_024453100.1:c.59405T>A (TTN)	XP_024308868.1:p.Val19802Asp