Canonical Allele Identifier: CA349436085

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179449407T>A (hg19) ; chr2:g.178584680T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178584680T>A , CM000664.2:g.178584680T>A	GRCh38
NC_000002.11:g.179449407T>A , CM000664.1:g.179449407T>A	GRCh37
NC_000002.10:g.179157653T>A	NCBI36
NG_011618.3:g.251123A>T , LRG_391:g.251123A>T
NG_051363.1:g.66854T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.57257A>T (TTN)	ENSP00000343764.6:p.Gln19086Leu
ENST00000342175.11:c.38342A>T (TTN)	ENSP00000340554.6:p.Gln12781Leu
ENST00000359218.10:c.38141A>T (TTN)	ENSP00000352154.5:p.Gln12714Leu
ENST00000342175.10:c.38342A>T (TTN)	ENSP00000340554.6:p.Gln12781Leu
ENST00000342992.10:c.57257A>T (TTN)	ENSP00000343764.6:p.Gln19086Leu
ENST00000359218.9:c.38141A>T (TTN)	ENSP00000352154.5:p.Gln12714Leu
ENST00000460472.6:c.37766A>T (TTN)	ENSP00000434586.1:p.Gln12589Leu
ENST00000589042.5:c.64961A>T (TTN) MANE Select	ENSP00000467141.1:p.Gln21654Leu
ENST00000591111.5:c.60038A>T (TTN)	ENSP00000465570.1:p.Gln20013Leu
ENST00000615779.4:c.60038A>T (TTN)	ENSP00000483597.1:p.Gln20013Leu
NM_001256850.1:c.60038A>T (TTN)	NP_001243779.1:p.Gln20013Leu
NM_001267550.2:c.64961A>T (TTN) MANE Select	NP_001254479.2:p.Gln21654Leu
NM_003319.4:c.37766A>T (TTN)	NP_003310.4:p.Gln12589Leu
NM_133378.4:c.57257A>T (TTN)	NP_596869.4:p.Gln19086Leu
NM_133432.3:c.38141A>T (TTN)	NP_597676.3:p.Gln12714Leu
NM_133437.4:c.38342A>T (TTN)	NP_597681.4:p.Gln12781Leu
NR_038271.1:n.597-12916T>A (TTN-AS1)
NR_038272.1:n.2875T>A (TTN-AS1)
XM_011511729.1:c.64058A>T (TTN)	XP_011510031.1:p.Gln21353Leu
XM_011511730.1:c.37952A>T (TTN)	XP_011510032.1:p.Gln12651Leu
XM_011511731.1:c.37811A>T (TTN)	XP_011510033.1:p.Gln12604Leu
XM_017004819.1:c.63854A>T (TTN)	XP_016860308.1:p.Gln21285Leu
XM_017004820.1:c.59252A>T (TTN)	XP_016860309.1:p.Gln19751Leu
XM_017004821.1:c.59249A>T (TTN)	XP_016860310.1:p.Gln19750Leu
XM_017004822.1:c.56291A>T (TTN)	XP_016860311.1:p.Gln18764Leu
XM_017004823.1:c.37907A>T (TTN)	XP_016860312.1:p.Gln12636Leu
XM_024453094.1:c.59402A>T (TTN)	XP_024308862.1:p.Gln19801Leu
XM_024453095.1:c.59399A>T (TTN)	XP_024308863.1:p.Gln19800Leu
XM_024453096.1:c.58832A>T (TTN)	XP_024308864.1:p.Gln19611Leu
XM_024453097.1:c.56174A>T (TTN)	XP_024308865.1:p.Gln18725Leu
XM_024453098.1:c.56093A>T (TTN)	XP_024308866.1:p.Gln18698Leu
XM_024453099.1:c.37856A>T (TTN)	XP_024308867.1:p.Gln12619Leu
XM_024453100.1:c.27710A>T (TTN)	XP_024308868.1:p.Gln9237Leu