Canonical Allele Identifier: CA349618169

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179482779T>G (hg19) ; chr2:g.178618052T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178618052T>G , CM000664.2:g.178618052T>G	GRCh38
NC_000002.11:g.179482779T>G , CM000664.1:g.179482779T>G	GRCh37
NC_000002.10:g.179191024T>G	NCBI36
NG_011618.3:g.217751A>C , LRG_391:g.217751A>C
NG_051363.1:g.100226T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.39595A>C (TTN)	ENSP00000343764.6:p.Ile13199Leu
ENST00000342175.11:c.20680A>C (TTN)	ENSP00000340554.6:p.Ile6894Leu
ENST00000359218.10:c.20479A>C (TTN)	ENSP00000352154.5:p.Ile6827Leu
ENST00000342175.10:c.20680A>C (TTN)	ENSP00000340554.6:p.Ile6894Leu
ENST00000342992.10:c.39595A>C (TTN)	ENSP00000343764.6:p.Ile13199Leu
ENST00000359218.9:c.20479A>C (TTN)	ENSP00000352154.5:p.Ile6827Leu
ENST00000460472.6:c.20104A>C (TTN)	ENSP00000434586.1:p.Ile6702Leu
ENST00000589042.5:c.47299A>C (TTN) MANE Select	ENSP00000467141.1:p.Ile15767Leu
ENST00000591111.5:c.42376A>C (TTN)	ENSP00000465570.1:p.Ile14126Leu
ENST00000615779.4:c.42376A>C (TTN)	ENSP00000483597.1:p.Ile14126Leu
NM_001256850.1:c.42376A>C (TTN)	NP_001243779.1:p.Ile14126Leu
NM_001267550.2:c.47299A>C (TTN) MANE Select	NP_001254479.2:p.Ile15767Leu
NM_003319.4:c.20104A>C (TTN)	NP_003310.4:p.Ile6702Leu
NM_133378.4:c.39595A>C (TTN)	NP_596869.4:p.Ile13199Leu
NM_133432.3:c.20479A>C (TTN)	NP_597676.3:p.Ile6827Leu
NM_133437.4:c.20680A>C (TTN)	NP_597681.4:p.Ile6894Leu
NR_038271.1:n.1605-1701T>G (TTN-AS1)
XM_011511729.1:c.46396A>C (TTN)	XP_011510031.1:p.Ile15466Leu
XM_011511730.1:c.20290A>C (TTN)	XP_011510032.1:p.Ile6764Leu
XM_011511731.1:c.20149A>C (TTN)	XP_011510033.1:p.Ile6717Leu
XM_017004819.1:c.46192A>C (TTN)	XP_016860308.1:p.Ile15398Leu
XM_017004820.1:c.41590A>C (TTN)	XP_016860309.1:p.Ile13864Leu
XM_017004821.1:c.41587A>C (TTN)	XP_016860310.1:p.Ile13863Leu
XM_017004822.1:c.38629A>C (TTN)	XP_016860311.1:p.Ile12877Leu
XM_017004823.1:c.20245A>C (TTN)	XP_016860312.1:p.Ile6749Leu
XM_024453094.1:c.41740A>C (TTN)	XP_024308862.1:p.Ile13914Leu
XM_024453095.1:c.41737A>C (TTN)	XP_024308863.1:p.Ile13913Leu
XM_024453096.1:c.41170A>C (TTN)	XP_024308864.1:p.Ile13724Leu
XM_024453097.1:c.38512A>C (TTN)	XP_024308865.1:p.Ile12838Leu
XM_024453098.1:c.38431A>C (TTN)	XP_024308866.1:p.Ile12811Leu
XM_024453099.1:c.20194A>C (TTN)	XP_024308867.1:p.Ile6732Leu
XM_024453100.1:c.10048A>C (TTN)	XP_024308868.1:p.Ile3350Leu