Canonical Allele Identifier: CA349450454

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179408585C>A (hg19) ; chr2:g.178543858C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543858C>A , CM000664.2:g.178543858C>A	GRCh38
NC_000002.11:g.179408585C>A , CM000664.1:g.179408585C>A	GRCh37
NC_000002.10:g.179116831C>A	NCBI36
NG_011618.3:g.291945G>T , LRG_391:g.291945G>T
NG_051363.1:g.26032C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88582G>T (TTN)	ENSP00000343764.6:p.Ala29528Ser
ENST00000342175.11:c.69667G>T (TTN)	ENSP00000340554.6:p.Ala23223Ser
ENST00000359218.10:c.69466G>T (TTN)	ENSP00000352154.5:p.Ala23156Ser
ENST00000342175.10:c.69667G>T (TTN)	ENSP00000340554.6:p.Ala23223Ser
ENST00000342992.10:c.88582G>T (TTN)	ENSP00000343764.6:p.Ala29528Ser
ENST00000359218.9:c.69466G>T (TTN)	ENSP00000352154.5:p.Ala23156Ser
ENST00000460472.6:c.69091G>T (TTN)	ENSP00000434586.1:p.Ala23031Ser
ENST00000589042.5:c.96286G>T (TTN) MANE Select	ENSP00000467141.1:p.Ala32096Ser
ENST00000591111.5:c.91363G>T (TTN)	ENSP00000465570.1:p.Ala30455Ser
ENST00000615779.4:c.91363G>T (TTN)	ENSP00000483597.1:p.Ala30455Ser
NM_001256850.1:c.91363G>T (TTN)	NP_001243779.1:p.Ala30455Ser
NM_001267550.2:c.96286G>T (TTN) MANE Select	NP_001254479.2:p.Ala32096Ser
NM_003319.4:c.69091G>T (TTN)	NP_003310.4:p.Ala23031Ser
NM_133378.4:c.88582G>T (TTN)	NP_596869.4:p.Ala29528Ser
NM_133432.3:c.69466G>T (TTN)	NP_597676.3:p.Ala23156Ser
NM_133437.4:c.69667G>T (TTN)	NP_597681.4:p.Ala23223Ser
NR_038271.1:n.446+20222C>A (TTN-AS1)
NR_038272.1:n.2043+1497C>A (TTN-AS1)
XM_011511729.1:c.95383G>T (TTN)	XP_011510031.1:p.Ala31795Ser
XM_011511730.1:c.69277G>T (TTN)	XP_011510032.1:p.Ala23093Ser
XM_011511731.1:c.69136G>T (TTN)	XP_011510033.1:p.Ala23046Ser
XM_017004819.1:c.95179G>T (TTN)	XP_016860308.1:p.Ala31727Ser
XM_017004820.1:c.90577G>T (TTN)	XP_016860309.1:p.Ala30193Ser
XM_017004821.1:c.90574G>T (TTN)	XP_016860310.1:p.Ala30192Ser
XM_017004822.1:c.87616G>T (TTN)	XP_016860311.1:p.Ala29206Ser
XM_017004823.1:c.69232G>T (TTN)	XP_016860312.1:p.Ala23078Ser
XM_024453094.1:c.90727G>T (TTN)	XP_024308862.1:p.Ala30243Ser
XM_024453095.1:c.90724G>T (TTN)	XP_024308863.1:p.Ala30242Ser
XM_024453096.1:c.90157G>T (TTN)	XP_024308864.1:p.Ala30053Ser
XM_024453097.1:c.87499G>T (TTN)	XP_024308865.1:p.Ala29167Ser
XM_024453098.1:c.87418G>T (TTN)	XP_024308866.1:p.Ala29140Ser
XM_024453099.1:c.69181G>T (TTN)	XP_024308867.1:p.Ala23061Ser
XM_024453100.1:c.59035G>T (TTN)	XP_024308868.1:p.Ala19679Ser