Canonical Allele Identifier: CA349610672

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179433458T>G (hg19) ; chr2:g.178568731T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178568731T>G , CM000664.2:g.178568731T>G	GRCh38
NC_000002.11:g.179433458T>G , CM000664.1:g.179433458T>G	GRCh37
NC_000002.10:g.179141704T>G	NCBI36
NG_011618.3:g.267072A>C , LRG_391:g.267072A>C
NG_051363.1:g.50905T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.69697A>C (TTN)	ENSP00000343764.6:p.Lys23233Gln
ENST00000342175.11:c.50782A>C (TTN)	ENSP00000340554.6:p.Lys16928Gln
ENST00000359218.10:c.50581A>C (TTN)	ENSP00000352154.5:p.Lys16861Gln
ENST00000342175.10:c.50782A>C (TTN)	ENSP00000340554.6:p.Lys16928Gln
ENST00000342992.10:c.69697A>C (TTN)	ENSP00000343764.6:p.Lys23233Gln
ENST00000359218.9:c.50581A>C (TTN)	ENSP00000352154.5:p.Lys16861Gln
ENST00000460472.6:c.50206A>C (TTN)	ENSP00000434586.1:p.Lys16736Gln
ENST00000589042.5:c.77401A>C (TTN) MANE Select	ENSP00000467141.1:p.Lys25801Gln
ENST00000591111.5:c.72478A>C (TTN)	ENSP00000465570.1:p.Lys24160Gln
ENST00000615779.4:c.72478A>C (TTN)	ENSP00000483597.1:p.Lys24160Gln
NM_001256850.1:c.72478A>C (TTN)	NP_001243779.1:p.Lys24160Gln
NM_001267550.2:c.77401A>C (TTN) MANE Select	NP_001254479.2:p.Lys25801Gln
NM_003319.4:c.50206A>C (TTN)	NP_003310.4:p.Lys16736Gln
NM_133378.4:c.69697A>C (TTN)	NP_596869.4:p.Lys23233Gln
NM_133432.3:c.50581A>C (TTN)	NP_597676.3:p.Lys16861Gln
NM_133437.4:c.50782A>C (TTN)	NP_597681.4:p.Lys16928Gln
NR_038271.1:n.447-2569T>G (TTN-AS1)
NR_038272.1:n.2044-13841T>G (TTN-AS1)
XM_011511729.1:c.76498A>C (TTN)	XP_011510031.1:p.Lys25500Gln
XM_011511730.1:c.50392A>C (TTN)	XP_011510032.1:p.Lys16798Gln
XM_011511731.1:c.50251A>C (TTN)	XP_011510033.1:p.Lys16751Gln
XM_017004819.1:c.76294A>C (TTN)	XP_016860308.1:p.Lys25432Gln
XM_017004820.1:c.71692A>C (TTN)	XP_016860309.1:p.Lys23898Gln
XM_017004821.1:c.71689A>C (TTN)	XP_016860310.1:p.Lys23897Gln
XM_017004822.1:c.68731A>C (TTN)	XP_016860311.1:p.Lys22911Gln
XM_017004823.1:c.50347A>C (TTN)	XP_016860312.1:p.Lys16783Gln
XM_024453094.1:c.71842A>C (TTN)	XP_024308862.1:p.Lys23948Gln
XM_024453095.1:c.71839A>C (TTN)	XP_024308863.1:p.Lys23947Gln
XM_024453096.1:c.71272A>C (TTN)	XP_024308864.1:p.Lys23758Gln
XM_024453097.1:c.68614A>C (TTN)	XP_024308865.1:p.Lys22872Gln
XM_024453098.1:c.68533A>C (TTN)	XP_024308866.1:p.Lys22845Gln
XM_024453099.1:c.50296A>C (TTN)	XP_024308867.1:p.Lys16766Gln
XM_024453100.1:c.40150A>C (TTN)	XP_024308868.1:p.Lys13384Gln