Canonical Allele Identifier: CA349621014

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179435180T>G (hg19) ; chr2:g.178570453T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178570453T>G , CM000664.2:g.178570453T>G	GRCh38
NC_000002.11:g.179435180T>G , CM000664.1:g.179435180T>G	GRCh37
NC_000002.10:g.179143426T>G	NCBI36
NG_011618.3:g.265350A>C , LRG_391:g.265350A>C
NG_051363.1:g.52627T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.67975A>C (TTN)	ENSP00000343764.6:p.Lys22659Gln
ENST00000342175.11:c.49060A>C (TTN)	ENSP00000340554.6:p.Lys16354Gln
ENST00000359218.10:c.48859A>C (TTN)	ENSP00000352154.5:p.Lys16287Gln
ENST00000342175.10:c.49060A>C (TTN)	ENSP00000340554.6:p.Lys16354Gln
ENST00000342992.10:c.67975A>C (TTN)	ENSP00000343764.6:p.Lys22659Gln
ENST00000359218.9:c.48859A>C (TTN)	ENSP00000352154.5:p.Lys16287Gln
ENST00000460472.6:c.48484A>C (TTN)	ENSP00000434586.1:p.Lys16162Gln
ENST00000589042.5:c.75679A>C (TTN) MANE Select	ENSP00000467141.1:p.Lys25227Gln
ENST00000591111.5:c.70756A>C (TTN)	ENSP00000465570.1:p.Lys23586Gln
ENST00000615779.4:c.70756A>C (TTN)	ENSP00000483597.1:p.Lys23586Gln
NM_001256850.1:c.70756A>C (TTN)	NP_001243779.1:p.Lys23586Gln
NM_001267550.2:c.75679A>C (TTN) MANE Select	NP_001254479.2:p.Lys25227Gln
NM_003319.4:c.48484A>C (TTN)	NP_003310.4:p.Lys16162Gln
NM_133378.4:c.67975A>C (TTN)	NP_596869.4:p.Lys22659Gln
NM_133432.3:c.48859A>C (TTN)	NP_597676.3:p.Lys16287Gln
NM_133437.4:c.49060A>C (TTN)	NP_597681.4:p.Lys16354Gln
NR_038271.1:n.447-847T>G (TTN-AS1)
NR_038272.1:n.2044-12119T>G (TTN-AS1)
XM_011511729.1:c.74776A>C (TTN)	XP_011510031.1:p.Lys24926Gln
XM_011511730.1:c.48670A>C (TTN)	XP_011510032.1:p.Lys16224Gln
XM_011511731.1:c.48529A>C (TTN)	XP_011510033.1:p.Lys16177Gln
XM_017004819.1:c.74572A>C (TTN)	XP_016860308.1:p.Lys24858Gln
XM_017004820.1:c.69970A>C (TTN)	XP_016860309.1:p.Lys23324Gln
XM_017004821.1:c.69967A>C (TTN)	XP_016860310.1:p.Lys23323Gln
XM_017004822.1:c.67009A>C (TTN)	XP_016860311.1:p.Lys22337Gln
XM_017004823.1:c.48625A>C (TTN)	XP_016860312.1:p.Lys16209Gln
XM_024453094.1:c.70120A>C (TTN)	XP_024308862.1:p.Lys23374Gln
XM_024453095.1:c.70117A>C (TTN)	XP_024308863.1:p.Lys23373Gln
XM_024453096.1:c.69550A>C (TTN)	XP_024308864.1:p.Lys23184Gln
XM_024453097.1:c.66892A>C (TTN)	XP_024308865.1:p.Lys22298Gln
XM_024453098.1:c.66811A>C (TTN)	XP_024308866.1:p.Lys22271Gln
XM_024453099.1:c.48574A>C (TTN)	XP_024308867.1:p.Lys16192Gln
XM_024453100.1:c.38428A>C (TTN)	XP_024308868.1:p.Lys12810Gln