Canonical Allele Identifier: CA349601298

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179432111A>T (hg19) ; chr2:g.178567384A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178567384A>T , CM000664.2:g.178567384A>T	GRCh38
NC_000002.11:g.179432111A>T , CM000664.1:g.179432111A>T	GRCh37
NC_000002.10:g.179140357A>T	NCBI36
NG_011618.3:g.268419T>A , LRG_391:g.268419T>A
NG_051363.1:g.49558A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.71044T>A (TTN)	ENSP00000343764.6:p.Leu23682Ile
ENST00000342175.11:c.52129T>A (TTN)	ENSP00000340554.6:p.Leu17377Ile
ENST00000359218.10:c.51928T>A (TTN)	ENSP00000352154.5:p.Leu17310Ile
ENST00000342175.10:c.52129T>A (TTN)	ENSP00000340554.6:p.Leu17377Ile
ENST00000342992.10:c.71044T>A (TTN)	ENSP00000343764.6:p.Leu23682Ile
ENST00000359218.9:c.51928T>A (TTN)	ENSP00000352154.5:p.Leu17310Ile
ENST00000460472.6:c.51553T>A (TTN)	ENSP00000434586.1:p.Leu17185Ile
ENST00000589042.5:c.78748T>A (TTN) MANE Select	ENSP00000467141.1:p.Leu26250Ile
ENST00000591111.5:c.73825T>A (TTN)	ENSP00000465570.1:p.Leu24609Ile
ENST00000615779.4:c.73825T>A (TTN)	ENSP00000483597.1:p.Leu24609Ile
NM_001256850.1:c.73825T>A (TTN)	NP_001243779.1:p.Leu24609Ile
NM_001267550.2:c.78748T>A (TTN) MANE Select	NP_001254479.2:p.Leu26250Ile
NM_003319.4:c.51553T>A (TTN)	NP_003310.4:p.Leu17185Ile
NM_133378.4:c.71044T>A (TTN)	NP_596869.4:p.Leu23682Ile
NM_133432.3:c.51928T>A (TTN)	NP_597676.3:p.Leu17310Ile
NM_133437.4:c.52129T>A (TTN)	NP_597681.4:p.Leu17377Ile
NR_038271.1:n.447-3916A>T (TTN-AS1)
NR_038272.1:n.2044-15188A>T (TTN-AS1)
XM_011511729.1:c.77845T>A (TTN)	XP_011510031.1:p.Leu25949Ile
XM_011511730.1:c.51739T>A (TTN)	XP_011510032.1:p.Leu17247Ile
XM_011511731.1:c.51598T>A (TTN)	XP_011510033.1:p.Leu17200Ile
XM_017004819.1:c.77641T>A (TTN)	XP_016860308.1:p.Leu25881Ile
XM_017004820.1:c.73039T>A (TTN)	XP_016860309.1:p.Leu24347Ile
XM_017004821.1:c.73036T>A (TTN)	XP_016860310.1:p.Leu24346Ile
XM_017004822.1:c.70078T>A (TTN)	XP_016860311.1:p.Leu23360Ile
XM_017004823.1:c.51694T>A (TTN)	XP_016860312.1:p.Leu17232Ile
XM_024453094.1:c.73189T>A (TTN)	XP_024308862.1:p.Leu24397Ile
XM_024453095.1:c.73186T>A (TTN)	XP_024308863.1:p.Leu24396Ile
XM_024453096.1:c.72619T>A (TTN)	XP_024308864.1:p.Leu24207Ile
XM_024453097.1:c.69961T>A (TTN)	XP_024308865.1:p.Leu23321Ile
XM_024453098.1:c.69880T>A (TTN)	XP_024308866.1:p.Leu23294Ile
XM_024453099.1:c.51643T>A (TTN)	XP_024308867.1:p.Leu17215Ile
XM_024453100.1:c.41497T>A (TTN)	XP_024308868.1:p.Leu13833Ile