Canonical Allele Identifier: CA349495851

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179414529C>A (hg19) ; chr2:g.178549802C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178549802C>A , CM000664.2:g.178549802C>A	GRCh38
NC_000002.11:g.179414529C>A , CM000664.1:g.179414529C>A	GRCh37
NC_000002.10:g.179122775C>A	NCBI36
NG_011618.3:g.286001G>T , LRG_391:g.286001G>T
NG_051363.1:g.31976C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.84216G>T (TTN)	ENSP00000343764.6:p.Trp28072Cys
ENST00000342175.11:c.65301G>T (TTN)	ENSP00000340554.6:p.Trp21767Cys
ENST00000359218.10:c.65100G>T (TTN)	ENSP00000352154.5:p.Trp21700Cys
ENST00000342175.10:c.65301G>T (TTN)	ENSP00000340554.6:p.Trp21767Cys
ENST00000342992.10:c.84216G>T (TTN)	ENSP00000343764.6:p.Trp28072Cys
ENST00000359218.9:c.65100G>T (TTN)	ENSP00000352154.5:p.Trp21700Cys
ENST00000460472.6:c.64725G>T (TTN)	ENSP00000434586.1:p.Trp21575Cys
ENST00000589042.5:c.91920G>T (TTN) MANE Select	ENSP00000467141.1:p.Trp30640Cys
ENST00000591111.5:c.86997G>T (TTN)	ENSP00000465570.1:p.Trp28999Cys
ENST00000615779.4:c.86997G>T (TTN)	ENSP00000483597.1:p.Trp28999Cys
NM_001256850.1:c.86997G>T (TTN)	NP_001243779.1:p.Trp28999Cys
NM_001267550.2:c.91920G>T (TTN) MANE Select	NP_001254479.2:p.Trp30640Cys
NM_003319.4:c.64725G>T (TTN)	NP_003310.4:p.Trp21575Cys
NM_133378.4:c.84216G>T (TTN)	NP_596869.4:p.Trp28072Cys
NM_133432.3:c.65100G>T (TTN)	NP_597676.3:p.Trp21700Cys
NM_133437.4:c.65301G>T (TTN)	NP_597681.4:p.Trp21767Cys
NR_038271.1:n.447-21498C>A (TTN-AS1)
NR_038272.1:n.2043+7441C>A (TTN-AS1)
XM_011511729.1:c.91017G>T (TTN)	XP_011510031.1:p.Trp30339Cys
XM_011511730.1:c.64911G>T (TTN)	XP_011510032.1:p.Trp21637Cys
XM_011511731.1:c.64770G>T (TTN)	XP_011510033.1:p.Trp21590Cys
XM_017004819.1:c.90813G>T (TTN)	XP_016860308.1:p.Trp30271Cys
XM_017004820.1:c.86211G>T (TTN)	XP_016860309.1:p.Trp28737Cys
XM_017004821.1:c.86208G>T (TTN)	XP_016860310.1:p.Trp28736Cys
XM_017004822.1:c.83250G>T (TTN)	XP_016860311.1:p.Trp27750Cys
XM_017004823.1:c.64866G>T (TTN)	XP_016860312.1:p.Trp21622Cys
XM_024453094.1:c.86361G>T (TTN)	XP_024308862.1:p.Trp28787Cys
XM_024453095.1:c.86358G>T (TTN)	XP_024308863.1:p.Trp28786Cys
XM_024453096.1:c.85791G>T (TTN)	XP_024308864.1:p.Trp28597Cys
XM_024453097.1:c.83133G>T (TTN)	XP_024308865.1:p.Trp27711Cys
XM_024453098.1:c.83052G>T (TTN)	XP_024308866.1:p.Trp27684Cys
XM_024453099.1:c.64815G>T (TTN)	XP_024308867.1:p.Trp21605Cys
XM_024453100.1:c.54669G>T (TTN)	XP_024308868.1:p.Trp18223Cys