Canonical Allele Identifier: CA349405314

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179394789A>T (hg19) ; chr2:g.178530062A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530062A>T , CM000664.2:g.178530062A>T	GRCh38
NC_000002.11:g.179394789A>T , CM000664.1:g.179394789A>T	GRCh37
NC_000002.10:g.179103035A>T	NCBI36
NG_011618.3:g.305741T>A , LRG_391:g.305741T>A
NG_051363.1:g.12236A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98725T>A (TTN)	ENSP00000343764.6:p.Leu32909Ile
ENST00000342175.11:c.79810T>A (TTN)	ENSP00000340554.6:p.Leu26604Ile
ENST00000359218.10:c.79609T>A (TTN)	ENSP00000352154.5:p.Leu26537Ile
ENST00000342175.10:c.79810T>A (TTN)	ENSP00000340554.6:p.Leu26604Ile
ENST00000342992.10:c.98725T>A (TTN)	ENSP00000343764.6:p.Leu32909Ile
ENST00000359218.9:c.79609T>A (TTN)	ENSP00000352154.5:p.Leu26537Ile
ENST00000460472.6:c.79234T>A (TTN)	ENSP00000434586.1:p.Leu26412Ile
ENST00000589042.5:c.106429T>A (TTN) MANE Select	ENSP00000467141.1:p.Leu35477Ile
ENST00000591111.5:c.101506T>A (TTN)	ENSP00000465570.1:p.Leu33836Ile
ENST00000615779.4:c.101506T>A (TTN)	ENSP00000483597.1:p.Leu33836Ile
NM_001256850.1:c.101506T>A (TTN)	NP_001243779.1:p.Leu33836Ile
NM_001267550.2:c.106429T>A (TTN) MANE Select	NP_001254479.2:p.Leu35477Ile
NM_003319.4:c.79234T>A (TTN)	NP_003310.4:p.Leu26412Ile
NM_133378.4:c.98725T>A (TTN)	NP_596869.4:p.Leu32909Ile
NM_133432.3:c.79609T>A (TTN)	NP_597676.3:p.Leu26537Ile
NM_133437.4:c.79810T>A (TTN)	NP_597681.4:p.Leu26604Ile
NR_038271.1:n.446+6426A>T (TTN-AS1)
NR_038272.1:n.220-5670A>T (TTN-AS1)
XM_011511729.1:c.105526T>A (TTN)	XP_011510031.1:p.Leu35176Ile
XM_011511730.1:c.79420T>A (TTN)	XP_011510032.1:p.Leu26474Ile
XM_011511731.1:c.79279T>A (TTN)	XP_011510033.1:p.Leu26427Ile
XM_017004819.1:c.105322T>A (TTN)	XP_016860308.1:p.Leu35108Ile
XM_017004820.1:c.100720T>A (TTN)	XP_016860309.1:p.Leu33574Ile
XM_017004821.1:c.100717T>A (TTN)	XP_016860310.1:p.Leu33573Ile
XM_017004822.1:c.97759T>A (TTN)	XP_016860311.1:p.Leu32587Ile
XM_017004823.1:c.79375T>A (TTN)	XP_016860312.1:p.Leu26459Ile
XM_024453094.1:c.100870T>A (TTN)	XP_024308862.1:p.Leu33624Ile
XM_024453095.1:c.100867T>A (TTN)	XP_024308863.1:p.Leu33623Ile
XM_024453096.1:c.100300T>A (TTN)	XP_024308864.1:p.Leu33434Ile
XM_024453097.1:c.97642T>A (TTN)	XP_024308865.1:p.Leu32548Ile
XM_024453098.1:c.97561T>A (TTN)	XP_024308866.1:p.Leu32521Ile
XM_024453099.1:c.79324T>A (TTN)	XP_024308867.1:p.Leu26442Ile
XM_024453100.1:c.69178T>A (TTN)	XP_024308868.1:p.Leu23060Ile