Canonical Allele Identifier: CA349407173

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179395306T>G (hg19) ; chr2:g.178530579T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530579T>G , CM000664.2:g.178530579T>G	GRCh38
NC_000002.11:g.179395306T>G , CM000664.1:g.179395306T>G	GRCh37
NC_000002.10:g.179103552T>G	NCBI36
NG_011618.3:g.305224A>C , LRG_391:g.305224A>C
NG_051363.1:g.12753T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98332A>C (TTN)	ENSP00000343764.6:p.Ile32778Leu
ENST00000342175.11:c.79417A>C (TTN)	ENSP00000340554.6:p.Ile26473Leu
ENST00000359218.10:c.79216A>C (TTN)	ENSP00000352154.5:p.Ile26406Leu
ENST00000342175.10:c.79417A>C (TTN)	ENSP00000340554.6:p.Ile26473Leu
ENST00000342992.10:c.98332A>C (TTN)	ENSP00000343764.6:p.Ile32778Leu
ENST00000359218.9:c.79216A>C (TTN)	ENSP00000352154.5:p.Ile26406Leu
ENST00000460472.6:c.78841A>C (TTN)	ENSP00000434586.1:p.Ile26281Leu
ENST00000589042.5:c.106036A>C (TTN) MANE Select	ENSP00000467141.1:p.Ile35346Leu
ENST00000591111.5:c.101113A>C (TTN)	ENSP00000465570.1:p.Ile33705Leu
ENST00000615779.4:c.101113A>C (TTN)	ENSP00000483597.1:p.Ile33705Leu
NM_001256850.1:c.101113A>C (TTN)	NP_001243779.1:p.Ile33705Leu
NM_001267550.2:c.106036A>C (TTN) MANE Select	NP_001254479.2:p.Ile35346Leu
NM_003319.4:c.78841A>C (TTN)	NP_003310.4:p.Ile26281Leu
NM_133378.4:c.98332A>C (TTN)	NP_596869.4:p.Ile32778Leu
NM_133432.3:c.79216A>C (TTN)	NP_597676.3:p.Ile26406Leu
NM_133437.4:c.79417A>C (TTN)	NP_597681.4:p.Ile26473Leu
NR_038271.1:n.446+6943T>G (TTN-AS1)
NR_038272.1:n.220-5153T>G (TTN-AS1)
XM_011511729.1:c.105133A>C (TTN)	XP_011510031.1:p.Ile35045Leu
XM_011511730.1:c.79027A>C (TTN)	XP_011510032.1:p.Ile26343Leu
XM_011511731.1:c.78886A>C (TTN)	XP_011510033.1:p.Ile26296Leu
XM_017004819.1:c.104929A>C (TTN)	XP_016860308.1:p.Ile34977Leu
XM_017004820.1:c.100327A>C (TTN)	XP_016860309.1:p.Ile33443Leu
XM_017004821.1:c.100324A>C (TTN)	XP_016860310.1:p.Ile33442Leu
XM_017004822.1:c.97366A>C (TTN)	XP_016860311.1:p.Ile32456Leu
XM_017004823.1:c.78982A>C (TTN)	XP_016860312.1:p.Ile26328Leu
XM_024453094.1:c.100477A>C (TTN)	XP_024308862.1:p.Ile33493Leu
XM_024453095.1:c.100474A>C (TTN)	XP_024308863.1:p.Ile33492Leu
XM_024453096.1:c.99907A>C (TTN)	XP_024308864.1:p.Ile33303Leu
XM_024453097.1:c.97249A>C (TTN)	XP_024308865.1:p.Ile32417Leu
XM_024453098.1:c.97168A>C (TTN)	XP_024308866.1:p.Ile32390Leu
XM_024453099.1:c.78931A>C (TTN)	XP_024308867.1:p.Ile26311Leu
XM_024453100.1:c.68785A>C (TTN)	XP_024308868.1:p.Ile22929Leu