Canonical Allele Identifier: CA349478896

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179412361C>A (hg19) ; chr2:g.178547634C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178547634C>A , CM000664.2:g.178547634C>A	GRCh38
NC_000002.11:g.179412361C>A , CM000664.1:g.179412361C>A	GRCh37
NC_000002.10:g.179120607C>A	NCBI36
NG_011618.3:g.288169G>T , LRG_391:g.288169G>T
NG_051363.1:g.29808C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.86288G>T (TTN)	ENSP00000343764.6:p.Gly28763Val
ENST00000342175.11:c.67373G>T (TTN)	ENSP00000340554.6:p.Gly22458Val
ENST00000359218.10:c.67172G>T (TTN)	ENSP00000352154.5:p.Gly22391Val
ENST00000342175.10:c.67373G>T (TTN)	ENSP00000340554.6:p.Gly22458Val
ENST00000342992.10:c.86288G>T (TTN)	ENSP00000343764.6:p.Gly28763Val
ENST00000359218.9:c.67172G>T (TTN)	ENSP00000352154.5:p.Gly22391Val
ENST00000460472.6:c.66797G>T (TTN)	ENSP00000434586.1:p.Gly22266Val
ENST00000589042.5:c.93992G>T (TTN) MANE Select	ENSP00000467141.1:p.Gly31331Val
ENST00000591111.5:c.89069G>T (TTN)	ENSP00000465570.1:p.Gly29690Val
ENST00000615779.4:c.89069G>T (TTN)	ENSP00000483597.1:p.Gly29690Val
NM_001256850.1:c.89069G>T (TTN)	NP_001243779.1:p.Gly29690Val
NM_001267550.2:c.93992G>T (TTN) MANE Select	NP_001254479.2:p.Gly31331Val
NM_003319.4:c.66797G>T (TTN)	NP_003310.4:p.Gly22266Val
NM_133378.4:c.86288G>T (TTN)	NP_596869.4:p.Gly28763Val
NM_133432.3:c.67172G>T (TTN)	NP_597676.3:p.Gly22391Val
NM_133437.4:c.67373G>T (TTN)	NP_597681.4:p.Gly22458Val
NR_038271.1:n.447-23666C>A (TTN-AS1)
NR_038272.1:n.2043+5273C>A (TTN-AS1)
XM_011511729.1:c.93089G>T (TTN)	XP_011510031.1:p.Gly31030Val
XM_011511730.1:c.66983G>T (TTN)	XP_011510032.1:p.Gly22328Val
XM_011511731.1:c.66842G>T (TTN)	XP_011510033.1:p.Gly22281Val
XM_017004819.1:c.92885G>T (TTN)	XP_016860308.1:p.Gly30962Val
XM_017004820.1:c.88283G>T (TTN)	XP_016860309.1:p.Gly29428Val
XM_017004821.1:c.88280G>T (TTN)	XP_016860310.1:p.Gly29427Val
XM_017004822.1:c.85322G>T (TTN)	XP_016860311.1:p.Gly28441Val
XM_017004823.1:c.66938G>T (TTN)	XP_016860312.1:p.Gly22313Val
XM_024453094.1:c.88433G>T (TTN)	XP_024308862.1:p.Gly29478Val
XM_024453095.1:c.88430G>T (TTN)	XP_024308863.1:p.Gly29477Val
XM_024453096.1:c.87863G>T (TTN)	XP_024308864.1:p.Gly29288Val
XM_024453097.1:c.85205G>T (TTN)	XP_024308865.1:p.Gly28402Val
XM_024453098.1:c.85124G>T (TTN)	XP_024308866.1:p.Gly28375Val
XM_024453099.1:c.66887G>T (TTN)	XP_024308867.1:p.Gly22296Val
XM_024453100.1:c.56741G>T (TTN)	XP_024308868.1:p.Gly18914Val