Canonical Allele Identifier: CA349510790

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179417194T>G (hg19) ; chr2:g.178552467T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178552467T>G , CM000664.2:g.178552467T>G	GRCh38
NC_000002.11:g.179417194T>G , CM000664.1:g.179417194T>G	GRCh37
NC_000002.10:g.179125440T>G	NCBI36
NG_011618.3:g.283336A>C , LRG_391:g.283336A>C
NG_051363.1:g.34641T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.82729A>C (TTN)	ENSP00000343764.6:p.Ile27577Leu
ENST00000342175.11:c.63814A>C (TTN)	ENSP00000340554.6:p.Ile21272Leu
ENST00000359218.10:c.63613A>C (TTN)	ENSP00000352154.5:p.Ile21205Leu
ENST00000342175.10:c.63814A>C (TTN)	ENSP00000340554.6:p.Ile21272Leu
ENST00000342992.10:c.82729A>C (TTN)	ENSP00000343764.6:p.Ile27577Leu
ENST00000359218.9:c.63613A>C (TTN)	ENSP00000352154.5:p.Ile21205Leu
ENST00000460472.6:c.63238A>C (TTN)	ENSP00000434586.1:p.Ile21080Leu
ENST00000589042.5:c.90433A>C (TTN) MANE Select	ENSP00000467141.1:p.Ile30145Leu
ENST00000591111.5:c.85510A>C (TTN)	ENSP00000465570.1:p.Ile28504Leu
ENST00000615779.4:c.85510A>C (TTN)	ENSP00000483597.1:p.Ile28504Leu
NM_001256850.1:c.85510A>C (TTN)	NP_001243779.1:p.Ile28504Leu
NM_001267550.2:c.90433A>C (TTN) MANE Select	NP_001254479.2:p.Ile30145Leu
NM_003319.4:c.63238A>C (TTN)	NP_003310.4:p.Ile21080Leu
NM_133378.4:c.82729A>C (TTN)	NP_596869.4:p.Ile27577Leu
NM_133432.3:c.63613A>C (TTN)	NP_597676.3:p.Ile21205Leu
NM_133437.4:c.63814A>C (TTN)	NP_597681.4:p.Ile21272Leu
NR_038271.1:n.447-18833T>G (TTN-AS1)
NR_038272.1:n.2043+10106T>G (TTN-AS1)
XM_011511729.1:c.89530A>C (TTN)	XP_011510031.1:p.Ile29844Leu
XM_011511730.1:c.63424A>C (TTN)	XP_011510032.1:p.Ile21142Leu
XM_011511731.1:c.63283A>C (TTN)	XP_011510033.1:p.Ile21095Leu
XM_017004819.1:c.89326A>C (TTN)	XP_016860308.1:p.Ile29776Leu
XM_017004820.1:c.84724A>C (TTN)	XP_016860309.1:p.Ile28242Leu
XM_017004821.1:c.84721A>C (TTN)	XP_016860310.1:p.Ile28241Leu
XM_017004822.1:c.81763A>C (TTN)	XP_016860311.1:p.Ile27255Leu
XM_017004823.1:c.63379A>C (TTN)	XP_016860312.1:p.Ile21127Leu
XM_024453094.1:c.84874A>C (TTN)	XP_024308862.1:p.Ile28292Leu
XM_024453095.1:c.84871A>C (TTN)	XP_024308863.1:p.Ile28291Leu
XM_024453096.1:c.84304A>C (TTN)	XP_024308864.1:p.Ile28102Leu
XM_024453097.1:c.81646A>C (TTN)	XP_024308865.1:p.Ile27216Leu
XM_024453098.1:c.81565A>C (TTN)	XP_024308866.1:p.Ile27189Leu
XM_024453099.1:c.63328A>C (TTN)	XP_024308867.1:p.Ile21110Leu
XM_024453100.1:c.53182A>C (TTN)	XP_024308868.1:p.Ile17728Leu