Canonical Allele Identifier: CA349507125

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179458757C>A (hg19) ; chr2:g.178594030C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178594030C>A , CM000664.2:g.178594030C>A	GRCh38
NC_000002.11:g.179458757C>A , CM000664.1:g.179458757C>A	GRCh37
NC_000002.10:g.179167003C>A	NCBI36
NG_011618.3:g.241773G>T , LRG_391:g.241773G>T
NG_051363.1:g.76204C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.50659G>T (TTN)	ENSP00000343764.6:p.Gly16887Cys
ENST00000342175.11:c.31744G>T (TTN)	ENSP00000340554.6:p.Gly10582Cys
ENST00000359218.10:c.31543G>T (TTN)	ENSP00000352154.5:p.Gly10515Cys
ENST00000342175.10:c.31744G>T (TTN)	ENSP00000340554.6:p.Gly10582Cys
ENST00000342992.10:c.50659G>T (TTN)	ENSP00000343764.6:p.Gly16887Cys
ENST00000359218.9:c.31543G>T (TTN)	ENSP00000352154.5:p.Gly10515Cys
ENST00000460472.6:c.31168G>T (TTN)	ENSP00000434586.1:p.Gly10390Cys
ENST00000589042.5:c.58363G>T (TTN) MANE Select	ENSP00000467141.1:p.Gly19455Cys
ENST00000591111.5:c.53440G>T (TTN)	ENSP00000465570.1:p.Gly17814Cys
ENST00000615779.4:c.53440G>T (TTN)	ENSP00000483597.1:p.Gly17814Cys
NM_001256850.1:c.53440G>T (TTN)	NP_001243779.1:p.Gly17814Cys
NM_001267550.2:c.58363G>T (TTN) MANE Select	NP_001254479.2:p.Gly19455Cys
NM_003319.4:c.31168G>T (TTN)	NP_003310.4:p.Gly10390Cys
NM_133378.4:c.50659G>T (TTN)	NP_596869.4:p.Gly16887Cys
NM_133432.3:c.31543G>T (TTN)	NP_597676.3:p.Gly10515Cys
NM_133437.4:c.31744G>T (TTN)	NP_597681.4:p.Gly10582Cys
NR_038271.1:n.597-3566C>A (TTN-AS1)
NR_038272.1:n.3364+2716C>A (TTN-AS1)
XM_011511729.1:c.57460G>T (TTN)	XP_011510031.1:p.Gly19154Cys
XM_011511730.1:c.31354G>T (TTN)	XP_011510032.1:p.Gly10452Cys
XM_011511731.1:c.31213G>T (TTN)	XP_011510033.1:p.Gly10405Cys
XM_017004819.1:c.57256G>T (TTN)	XP_016860308.1:p.Gly19086Cys
XM_017004820.1:c.52654G>T (TTN)	XP_016860309.1:p.Gly17552Cys
XM_017004821.1:c.52651G>T (TTN)	XP_016860310.1:p.Gly17551Cys
XM_017004822.1:c.49693G>T (TTN)	XP_016860311.1:p.Gly16565Cys
XM_017004823.1:c.31309G>T (TTN)	XP_016860312.1:p.Gly10437Cys
XM_024453094.1:c.52804G>T (TTN)	XP_024308862.1:p.Gly17602Cys
XM_024453095.1:c.52801G>T (TTN)	XP_024308863.1:p.Gly17601Cys
XM_024453096.1:c.52234G>T (TTN)	XP_024308864.1:p.Gly17412Cys
XM_024453097.1:c.49576G>T (TTN)	XP_024308865.1:p.Gly16526Cys
XM_024453098.1:c.49495G>T (TTN)	XP_024308866.1:p.Gly16499Cys
XM_024453099.1:c.31258G>T (TTN)	XP_024308867.1:p.Gly10420Cys
XM_024453100.1:c.21112G>T (TTN)	XP_024308868.1:p.Gly7038Cys