Canonical Allele Identifier: CA1993443

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs774650474
• ExAC: 2:179466267 A / G
• gnomAD v2: 2-179466267-A-G
• gnomAD v4: 2-178601540-A-G
• MyVariant Identifiers: chr2:g.179466267A>G (hg19) ; chr2:g.178601540A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178601540A>G , CM000664.2:g.178601540A>G	GRCh38
NC_000002.11:g.179466267A>G , CM000664.1:g.179466267A>G	GRCh37
NC_000002.10:g.179174512A>G	NCBI36
NG_011618.3:g.234263T>C , LRG_391:g.234263T>C
NG_051363.1:g.83714A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.47753T>C (TTN)	ENSP00000343764.6:p.Leu15918Pro
ENST00000342175.11:c.28838T>C (TTN)	ENSP00000340554.6:p.Leu9613Pro
ENST00000359218.10:c.28637T>C (TTN)	ENSP00000352154.5:p.Leu9546Pro
ENST00000342175.10:c.28838T>C (TTN)	ENSP00000340554.6:p.Leu9613Pro
ENST00000342992.10:c.47753T>C (TTN)	ENSP00000343764.6:p.Leu15918Pro
ENST00000359218.9:c.28637T>C (TTN)	ENSP00000352154.5:p.Leu9546Pro
ENST00000460472.6:c.28262T>C (TTN)	ENSP00000434586.1:p.Leu9421Pro
ENST00000589042.5:c.55457T>C (TTN) MANE Select	ENSP00000467141.1:p.Leu18486Pro
ENST00000591111.5:c.50534T>C (TTN)	ENSP00000465570.1:p.Leu16845Pro
ENST00000615779.4:c.50534T>C (TTN)	ENSP00000483597.1:p.Leu16845Pro
NM_001256850.1:c.50534T>C (TTN)	NP_001243779.1:p.Leu16845Pro
NM_001267550.2:c.55457T>C (TTN) MANE Select	NP_001254479.2:p.Leu18486Pro
NM_003319.4:c.28262T>C (TTN)	NP_003310.4:p.Leu9421Pro
NM_133378.4:c.47753T>C (TTN)	NP_596869.4:p.Leu15918Pro
NM_133432.3:c.28637T>C (TTN)	NP_597676.3:p.Leu9546Pro
NM_133437.4:c.28838T>C (TTN)	NP_597681.4:p.Leu9613Pro
NR_038271.1:n.682+3859A>G (TTN-AS1)
NR_038272.1:n.3917+873A>G (TTN-AS1)
XM_011511729.1:c.54554T>C (TTN)	XP_011510031.1:p.Leu18185Pro
XM_011511730.1:c.28448T>C (TTN)	XP_011510032.1:p.Leu9483Pro
XM_011511731.1:c.28307T>C (TTN)	XP_011510033.1:p.Leu9436Pro
XM_017004819.1:c.54350T>C (TTN)	XP_016860308.1:p.Leu18117Pro
XM_017004820.1:c.49748T>C (TTN)	XP_016860309.1:p.Leu16583Pro
XM_017004821.1:c.49745T>C (TTN)	XP_016860310.1:p.Leu16582Pro
XM_017004822.1:c.46787T>C (TTN)	XP_016860311.1:p.Leu15596Pro
XM_017004823.1:c.28403T>C (TTN)	XP_016860312.1:p.Leu9468Pro
XM_024453094.1:c.49898T>C (TTN)	XP_024308862.1:p.Leu16633Pro
XM_024453095.1:c.49895T>C (TTN)	XP_024308863.1:p.Leu16632Pro
XM_024453096.1:c.49328T>C (TTN)	XP_024308864.1:p.Leu16443Pro
XM_024453097.1:c.46670T>C (TTN)	XP_024308865.1:p.Leu15557Pro
XM_024453098.1:c.46589T>C (TTN)	XP_024308866.1:p.Leu15530Pro
XM_024453099.1:c.28352T>C (TTN)	XP_024308867.1:p.Leu9451Pro
XM_024453100.1:c.18206T>C (TTN)	XP_024308868.1:p.Leu6069Pro