Canonical Allele Identifier: CA349479261

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179455635A>C (hg19) ; chr2:g.178590908A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178590908A>C , CM000664.2:g.178590908A>C	GRCh38
NC_000002.11:g.179455635A>C , CM000664.1:g.179455635A>C	GRCh37
NC_000002.10:g.179163881A>C	NCBI36
NG_011618.3:g.244895T>G , LRG_391:g.244895T>G
NG_051363.1:g.73082A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.53113T>G (TTN)	ENSP00000343764.6:p.Ser17705Ala
ENST00000342175.11:c.34198T>G (TTN)	ENSP00000340554.6:p.Ser11400Ala
ENST00000359218.10:c.33997T>G (TTN)	ENSP00000352154.5:p.Ser11333Ala
ENST00000342175.10:c.34198T>G (TTN)	ENSP00000340554.6:p.Ser11400Ala
ENST00000342992.10:c.53113T>G (TTN)	ENSP00000343764.6:p.Ser17705Ala
ENST00000359218.9:c.33997T>G (TTN)	ENSP00000352154.5:p.Ser11333Ala
ENST00000460472.6:c.33622T>G (TTN)	ENSP00000434586.1:p.Ser11208Ala
ENST00000589042.5:c.60817T>G (TTN) MANE Select	ENSP00000467141.1:p.Ser20273Ala
ENST00000591111.5:c.55894T>G (TTN)	ENSP00000465570.1:p.Ser18632Ala
ENST00000615779.4:c.55894T>G (TTN)	ENSP00000483597.1:p.Ser18632Ala
NM_001256850.1:c.55894T>G (TTN)	NP_001243779.1:p.Ser18632Ala
NM_001267550.2:c.60817T>G (TTN) MANE Select	NP_001254479.2:p.Ser20273Ala
NM_003319.4:c.33622T>G (TTN)	NP_003310.4:p.Ser11208Ala
NM_133378.4:c.53113T>G (TTN)	NP_596869.4:p.Ser17705Ala
NM_133432.3:c.33997T>G (TTN)	NP_597676.3:p.Ser11333Ala
NM_133437.4:c.34198T>G (TTN)	NP_597681.4:p.Ser11400Ala
NR_038271.1:n.597-6688A>C (TTN-AS1)
NR_038272.1:n.3189-231A>C (TTN-AS1)
XM_011511729.1:c.59914T>G (TTN)	XP_011510031.1:p.Ser19972Ala
XM_011511730.1:c.33808T>G (TTN)	XP_011510032.1:p.Ser11270Ala
XM_011511731.1:c.33667T>G (TTN)	XP_011510033.1:p.Ser11223Ala
XM_017004819.1:c.59710T>G (TTN)	XP_016860308.1:p.Ser19904Ala
XM_017004820.1:c.55108T>G (TTN)	XP_016860309.1:p.Ser18370Ala
XM_017004821.1:c.55105T>G (TTN)	XP_016860310.1:p.Ser18369Ala
XM_017004822.1:c.52147T>G (TTN)	XP_016860311.1:p.Ser17383Ala
XM_017004823.1:c.33763T>G (TTN)	XP_016860312.1:p.Ser11255Ala
XM_024453094.1:c.55258T>G (TTN)	XP_024308862.1:p.Ser18420Ala
XM_024453095.1:c.55255T>G (TTN)	XP_024308863.1:p.Ser18419Ala
XM_024453096.1:c.54688T>G (TTN)	XP_024308864.1:p.Ser18230Ala
XM_024453097.1:c.52030T>G (TTN)	XP_024308865.1:p.Ser17344Ala
XM_024453098.1:c.51949T>G (TTN)	XP_024308866.1:p.Ser17317Ala
XM_024453099.1:c.33712T>G (TTN)	XP_024308867.1:p.Ser11238Ala
XM_024453100.1:c.23566T>G (TTN)	XP_024308868.1:p.Ser7856Ala