Canonical Allele Identifier: CA349620999

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179435179T>A (hg19) ; chr2:g.178570452T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178570452T>A , CM000664.2:g.178570452T>A	GRCh38
NC_000002.11:g.179435179T>A , CM000664.1:g.179435179T>A	GRCh37
NC_000002.10:g.179143425T>A	NCBI36
NG_011618.3:g.265351A>T , LRG_391:g.265351A>T
NG_051363.1:g.52626T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.67976A>T (TTN)	ENSP00000343764.6:p.Lys22659Ile
ENST00000342175.11:c.49061A>T (TTN)	ENSP00000340554.6:p.Lys16354Ile
ENST00000359218.10:c.48860A>T (TTN)	ENSP00000352154.5:p.Lys16287Ile
ENST00000342175.10:c.49061A>T (TTN)	ENSP00000340554.6:p.Lys16354Ile
ENST00000342992.10:c.67976A>T (TTN)	ENSP00000343764.6:p.Lys22659Ile
ENST00000359218.9:c.48860A>T (TTN)	ENSP00000352154.5:p.Lys16287Ile
ENST00000460472.6:c.48485A>T (TTN)	ENSP00000434586.1:p.Lys16162Ile
ENST00000589042.5:c.75680A>T (TTN) MANE Select	ENSP00000467141.1:p.Lys25227Ile
ENST00000591111.5:c.70757A>T (TTN)	ENSP00000465570.1:p.Lys23586Ile
ENST00000615779.4:c.70757A>T (TTN)	ENSP00000483597.1:p.Lys23586Ile
NM_001256850.1:c.70757A>T (TTN)	NP_001243779.1:p.Lys23586Ile
NM_001267550.2:c.75680A>T (TTN) MANE Select	NP_001254479.2:p.Lys25227Ile
NM_003319.4:c.48485A>T (TTN)	NP_003310.4:p.Lys16162Ile
NM_133378.4:c.67976A>T (TTN)	NP_596869.4:p.Lys22659Ile
NM_133432.3:c.48860A>T (TTN)	NP_597676.3:p.Lys16287Ile
NM_133437.4:c.49061A>T (TTN)	NP_597681.4:p.Lys16354Ile
NR_038271.1:n.447-848T>A (TTN-AS1)
NR_038272.1:n.2044-12120T>A (TTN-AS1)
XM_011511729.1:c.74777A>T (TTN)	XP_011510031.1:p.Lys24926Ile
XM_011511730.1:c.48671A>T (TTN)	XP_011510032.1:p.Lys16224Ile
XM_011511731.1:c.48530A>T (TTN)	XP_011510033.1:p.Lys16177Ile
XM_017004819.1:c.74573A>T (TTN)	XP_016860308.1:p.Lys24858Ile
XM_017004820.1:c.69971A>T (TTN)	XP_016860309.1:p.Lys23324Ile
XM_017004821.1:c.69968A>T (TTN)	XP_016860310.1:p.Lys23323Ile
XM_017004822.1:c.67010A>T (TTN)	XP_016860311.1:p.Lys22337Ile
XM_017004823.1:c.48626A>T (TTN)	XP_016860312.1:p.Lys16209Ile
XM_024453094.1:c.70121A>T (TTN)	XP_024308862.1:p.Lys23374Ile
XM_024453095.1:c.70118A>T (TTN)	XP_024308863.1:p.Lys23373Ile
XM_024453096.1:c.69551A>T (TTN)	XP_024308864.1:p.Lys23184Ile
XM_024453097.1:c.66893A>T (TTN)	XP_024308865.1:p.Lys22298Ile
XM_024453098.1:c.66812A>T (TTN)	XP_024308866.1:p.Lys22271Ile
XM_024453099.1:c.48575A>T (TTN)	XP_024308867.1:p.Lys16192Ile
XM_024453100.1:c.38429A>T (TTN)	XP_024308868.1:p.Lys12810Ile