Canonical Allele Identifier: CA349495506

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179414488T>A (hg19) ; chr2:g.178549761T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178549761T>A , CM000664.2:g.178549761T>A	GRCh38
NC_000002.11:g.179414488T>A , CM000664.1:g.179414488T>A	GRCh37
NC_000002.10:g.179122734T>A	NCBI36
NG_011618.3:g.286042A>T , LRG_391:g.286042A>T
NG_051363.1:g.31935T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.84257A>T (TTN)	ENSP00000343764.6:p.His28086Leu
ENST00000342175.11:c.65342A>T (TTN)	ENSP00000340554.6:p.His21781Leu
ENST00000359218.10:c.65141A>T (TTN)	ENSP00000352154.5:p.His21714Leu
ENST00000342175.10:c.65342A>T (TTN)	ENSP00000340554.6:p.His21781Leu
ENST00000342992.10:c.84257A>T (TTN)	ENSP00000343764.6:p.His28086Leu
ENST00000359218.9:c.65141A>T (TTN)	ENSP00000352154.5:p.His21714Leu
ENST00000460472.6:c.64766A>T (TTN)	ENSP00000434586.1:p.His21589Leu
ENST00000589042.5:c.91961A>T (TTN) MANE Select	ENSP00000467141.1:p.His30654Leu
ENST00000591111.5:c.87038A>T (TTN)	ENSP00000465570.1:p.His29013Leu
ENST00000615779.4:c.87038A>T (TTN)	ENSP00000483597.1:p.His29013Leu
NM_001256850.1:c.87038A>T (TTN)	NP_001243779.1:p.His29013Leu
NM_001267550.2:c.91961A>T (TTN) MANE Select	NP_001254479.2:p.His30654Leu
NM_003319.4:c.64766A>T (TTN)	NP_003310.4:p.His21589Leu
NM_133378.4:c.84257A>T (TTN)	NP_596869.4:p.His28086Leu
NM_133432.3:c.65141A>T (TTN)	NP_597676.3:p.His21714Leu
NM_133437.4:c.65342A>T (TTN)	NP_597681.4:p.His21781Leu
NR_038271.1:n.447-21539T>A (TTN-AS1)
NR_038272.1:n.2043+7400T>A (TTN-AS1)
XM_011511729.1:c.91058A>T (TTN)	XP_011510031.1:p.His30353Leu
XM_011511730.1:c.64952A>T (TTN)	XP_011510032.1:p.His21651Leu
XM_011511731.1:c.64811A>T (TTN)	XP_011510033.1:p.His21604Leu
XM_017004819.1:c.90854A>T (TTN)	XP_016860308.1:p.His30285Leu
XM_017004820.1:c.86252A>T (TTN)	XP_016860309.1:p.His28751Leu
XM_017004821.1:c.86249A>T (TTN)	XP_016860310.1:p.His28750Leu
XM_017004822.1:c.83291A>T (TTN)	XP_016860311.1:p.His27764Leu
XM_017004823.1:c.64907A>T (TTN)	XP_016860312.1:p.His21636Leu
XM_024453094.1:c.86402A>T (TTN)	XP_024308862.1:p.His28801Leu
XM_024453095.1:c.86399A>T (TTN)	XP_024308863.1:p.His28800Leu
XM_024453096.1:c.85832A>T (TTN)	XP_024308864.1:p.His28611Leu
XM_024453097.1:c.83174A>T (TTN)	XP_024308865.1:p.His27725Leu
XM_024453098.1:c.83093A>T (TTN)	XP_024308866.1:p.His27698Leu
XM_024453099.1:c.64856A>T (TTN)	XP_024308867.1:p.His21619Leu
XM_024453100.1:c.54710A>T (TTN)	XP_024308868.1:p.His18237Leu