Canonical Allele Identifier: CA349411758

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179396916A>G (hg19) ; chr2:g.178532189A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532189A>G , CM000664.2:g.178532189A>G	GRCh38
NC_000002.11:g.179396916A>G , CM000664.1:g.179396916A>G	GRCh37
NC_000002.10:g.179105162A>G	NCBI36
NG_011618.3:g.303614T>C , LRG_391:g.303614T>C
NG_051363.1:g.14363A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96722T>C (TTN)	ENSP00000343764.6:p.Val32241Ala
ENST00000342175.11:c.77807T>C (TTN)	ENSP00000340554.6:p.Val25936Ala
ENST00000359218.10:c.77606T>C (TTN)	ENSP00000352154.5:p.Val25869Ala
ENST00000342175.10:c.77807T>C (TTN)	ENSP00000340554.6:p.Val25936Ala
ENST00000342992.10:c.96722T>C (TTN)	ENSP00000343764.6:p.Val32241Ala
ENST00000359218.9:c.77606T>C (TTN)	ENSP00000352154.5:p.Val25869Ala
ENST00000460472.6:c.77231T>C (TTN)	ENSP00000434586.1:p.Val25744Ala
ENST00000589042.5:c.104426T>C (TTN) MANE Select	ENSP00000467141.1:p.Val34809Ala
ENST00000591111.5:c.99503T>C (TTN)	ENSP00000465570.1:p.Val33168Ala
ENST00000615779.4:c.99503T>C (TTN)	ENSP00000483597.1:p.Val33168Ala
NM_001256850.1:c.99503T>C (TTN)	NP_001243779.1:p.Val33168Ala
NM_001267550.2:c.104426T>C (TTN) MANE Select	NP_001254479.2:p.Val34809Ala
NM_003319.4:c.77231T>C (TTN)	NP_003310.4:p.Val25744Ala
NM_133378.4:c.96722T>C (TTN)	NP_596869.4:p.Val32241Ala
NM_133432.3:c.77606T>C (TTN)	NP_597676.3:p.Val25869Ala
NM_133437.4:c.77807T>C (TTN)	NP_597681.4:p.Val25936Ala
NR_038271.1:n.446+8553A>G (TTN-AS1)
NR_038272.1:n.220-3543A>G (TTN-AS1)
XM_011511729.1:c.103523T>C (TTN)	XP_011510031.1:p.Val34508Ala
XM_011511730.1:c.77417T>C (TTN)	XP_011510032.1:p.Val25806Ala
XM_011511731.1:c.77276T>C (TTN)	XP_011510033.1:p.Val25759Ala
XM_017004819.1:c.103319T>C (TTN)	XP_016860308.1:p.Val34440Ala
XM_017004820.1:c.98717T>C (TTN)	XP_016860309.1:p.Val32906Ala
XM_017004821.1:c.98714T>C (TTN)	XP_016860310.1:p.Val32905Ala
XM_017004822.1:c.95756T>C (TTN)	XP_016860311.1:p.Val31919Ala
XM_017004823.1:c.77372T>C (TTN)	XP_016860312.1:p.Val25791Ala
XM_024453094.1:c.98867T>C (TTN)	XP_024308862.1:p.Val32956Ala
XM_024453095.1:c.98864T>C (TTN)	XP_024308863.1:p.Val32955Ala
XM_024453096.1:c.98297T>C (TTN)	XP_024308864.1:p.Val32766Ala
XM_024453097.1:c.95639T>C (TTN)	XP_024308865.1:p.Val31880Ala
XM_024453098.1:c.95558T>C (TTN)	XP_024308866.1:p.Val31853Ala
XM_024453099.1:c.77321T>C (TTN)	XP_024308867.1:p.Val25774Ala
XM_024453100.1:c.67175T>C (TTN)	XP_024308868.1:p.Val22392Ala