Canonical Allele Identifier: CA349495875

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1698601878
• MyVariant Identifiers: chr2:g.179414531A>C (hg19) ; chr2:g.178549804A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178549804A>C , CM000664.2:g.178549804A>C	GRCh38
NC_000002.11:g.179414531A>C , CM000664.1:g.179414531A>C	GRCh37
NC_000002.10:g.179122777A>C	NCBI36
NG_011618.3:g.285999T>G , LRG_391:g.285999T>G
NG_051363.1:g.31978A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.84214T>G (TTN)	ENSP00000343764.6:p.Trp28072Gly
ENST00000342175.11:c.65299T>G (TTN)	ENSP00000340554.6:p.Trp21767Gly
ENST00000359218.10:c.65098T>G (TTN)	ENSP00000352154.5:p.Trp21700Gly
ENST00000342175.10:c.65299T>G (TTN)	ENSP00000340554.6:p.Trp21767Gly
ENST00000342992.10:c.84214T>G (TTN)	ENSP00000343764.6:p.Trp28072Gly
ENST00000359218.9:c.65098T>G (TTN)	ENSP00000352154.5:p.Trp21700Gly
ENST00000460472.6:c.64723T>G (TTN)	ENSP00000434586.1:p.Trp21575Gly
ENST00000589042.5:c.91918T>G (TTN) MANE Select	ENSP00000467141.1:p.Trp30640Gly
ENST00000591111.5:c.86995T>G (TTN)	ENSP00000465570.1:p.Trp28999Gly
ENST00000615779.4:c.86995T>G (TTN)	ENSP00000483597.1:p.Trp28999Gly
NM_001256850.1:c.86995T>G (TTN)	NP_001243779.1:p.Trp28999Gly
NM_001267550.2:c.91918T>G (TTN) MANE Select	NP_001254479.2:p.Trp30640Gly
NM_003319.4:c.64723T>G (TTN)	NP_003310.4:p.Trp21575Gly
NM_133378.4:c.84214T>G (TTN)	NP_596869.4:p.Trp28072Gly
NM_133432.3:c.65098T>G (TTN)	NP_597676.3:p.Trp21700Gly
NM_133437.4:c.65299T>G (TTN)	NP_597681.4:p.Trp21767Gly
NR_038271.1:n.447-21496A>C (TTN-AS1)
NR_038272.1:n.2043+7443A>C (TTN-AS1)
XM_011511729.1:c.91015T>G (TTN)	XP_011510031.1:p.Trp30339Gly
XM_011511730.1:c.64909T>G (TTN)	XP_011510032.1:p.Trp21637Gly
XM_011511731.1:c.64768T>G (TTN)	XP_011510033.1:p.Trp21590Gly
XM_017004819.1:c.90811T>G (TTN)	XP_016860308.1:p.Trp30271Gly
XM_017004820.1:c.86209T>G (TTN)	XP_016860309.1:p.Trp28737Gly
XM_017004821.1:c.86206T>G (TTN)	XP_016860310.1:p.Trp28736Gly
XM_017004822.1:c.83248T>G (TTN)	XP_016860311.1:p.Trp27750Gly
XM_017004823.1:c.64864T>G (TTN)	XP_016860312.1:p.Trp21622Gly
XM_024453094.1:c.86359T>G (TTN)	XP_024308862.1:p.Trp28787Gly
XM_024453095.1:c.86356T>G (TTN)	XP_024308863.1:p.Trp28786Gly
XM_024453096.1:c.85789T>G (TTN)	XP_024308864.1:p.Trp28597Gly
XM_024453097.1:c.83131T>G (TTN)	XP_024308865.1:p.Trp27711Gly
XM_024453098.1:c.83050T>G (TTN)	XP_024308866.1:p.Trp27684Gly
XM_024453099.1:c.64813T>G (TTN)	XP_024308867.1:p.Trp21605Gly
XM_024453100.1:c.54667T>G (TTN)	XP_024308868.1:p.Trp18223Gly