Canonical Allele Identifier: CA349406835

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179395177T>G (hg19) ; chr2:g.178530450T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530450T>G , CM000664.2:g.178530450T>G	GRCh38
NC_000002.11:g.179395177T>G , CM000664.1:g.179395177T>G	GRCh37
NC_000002.10:g.179103423T>G	NCBI36
NG_011618.3:g.305353A>C , LRG_391:g.305353A>C
NG_051363.1:g.12624T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98461A>C (TTN)	ENSP00000343764.6:p.Ile32821Leu
ENST00000342175.11:c.79546A>C (TTN)	ENSP00000340554.6:p.Ile26516Leu
ENST00000359218.10:c.79345A>C (TTN)	ENSP00000352154.5:p.Ile26449Leu
ENST00000342175.10:c.79546A>C (TTN)	ENSP00000340554.6:p.Ile26516Leu
ENST00000342992.10:c.98461A>C (TTN)	ENSP00000343764.6:p.Ile32821Leu
ENST00000359218.9:c.79345A>C (TTN)	ENSP00000352154.5:p.Ile26449Leu
ENST00000460472.6:c.78970A>C (TTN)	ENSP00000434586.1:p.Ile26324Leu
ENST00000589042.5:c.106165A>C (TTN) MANE Select	ENSP00000467141.1:p.Ile35389Leu
ENST00000591111.5:c.101242A>C (TTN)	ENSP00000465570.1:p.Ile33748Leu
ENST00000615779.4:c.101242A>C (TTN)	ENSP00000483597.1:p.Ile33748Leu
NM_001256850.1:c.101242A>C (TTN)	NP_001243779.1:p.Ile33748Leu
NM_001267550.2:c.106165A>C (TTN) MANE Select	NP_001254479.2:p.Ile35389Leu
NM_003319.4:c.78970A>C (TTN)	NP_003310.4:p.Ile26324Leu
NM_133378.4:c.98461A>C (TTN)	NP_596869.4:p.Ile32821Leu
NM_133432.3:c.79345A>C (TTN)	NP_597676.3:p.Ile26449Leu
NM_133437.4:c.79546A>C (TTN)	NP_597681.4:p.Ile26516Leu
NR_038271.1:n.446+6814T>G (TTN-AS1)
NR_038272.1:n.220-5282T>G (TTN-AS1)
XM_011511729.1:c.105262A>C (TTN)	XP_011510031.1:p.Ile35088Leu
XM_011511730.1:c.79156A>C (TTN)	XP_011510032.1:p.Ile26386Leu
XM_011511731.1:c.79015A>C (TTN)	XP_011510033.1:p.Ile26339Leu
XM_017004819.1:c.105058A>C (TTN)	XP_016860308.1:p.Ile35020Leu
XM_017004820.1:c.100456A>C (TTN)	XP_016860309.1:p.Ile33486Leu
XM_017004821.1:c.100453A>C (TTN)	XP_016860310.1:p.Ile33485Leu
XM_017004822.1:c.97495A>C (TTN)	XP_016860311.1:p.Ile32499Leu
XM_017004823.1:c.79111A>C (TTN)	XP_016860312.1:p.Ile26371Leu
XM_024453094.1:c.100606A>C (TTN)	XP_024308862.1:p.Ile33536Leu
XM_024453095.1:c.100603A>C (TTN)	XP_024308863.1:p.Ile33535Leu
XM_024453096.1:c.100036A>C (TTN)	XP_024308864.1:p.Ile33346Leu
XM_024453097.1:c.97378A>C (TTN)	XP_024308865.1:p.Ile32460Leu
XM_024453098.1:c.97297A>C (TTN)	XP_024308866.1:p.Ile32433Leu
XM_024453099.1:c.79060A>C (TTN)	XP_024308867.1:p.Ile26354Leu
XM_024453100.1:c.68914A>C (TTN)	XP_024308868.1:p.Ile22972Leu