Canonical Allele Identifier: CA349405303

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179394787T>A (hg19) ; chr2:g.178530060T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530060T>A , CM000664.2:g.178530060T>A	GRCh38
NC_000002.11:g.179394787T>A , CM000664.1:g.179394787T>A	GRCh37
NC_000002.10:g.179103033T>A	NCBI36
NG_011618.3:g.305743A>T , LRG_391:g.305743A>T
NG_051363.1:g.12234T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98727A>T (TTN)	ENSP00000343764.6:p.Leu32909Phe
ENST00000342175.11:c.79812A>T (TTN)	ENSP00000340554.6:p.Leu26604Phe
ENST00000359218.10:c.79611A>T (TTN)	ENSP00000352154.5:p.Leu26537Phe
ENST00000342175.10:c.79812A>T (TTN)	ENSP00000340554.6:p.Leu26604Phe
ENST00000342992.10:c.98727A>T (TTN)	ENSP00000343764.6:p.Leu32909Phe
ENST00000359218.9:c.79611A>T (TTN)	ENSP00000352154.5:p.Leu26537Phe
ENST00000460472.6:c.79236A>T (TTN)	ENSP00000434586.1:p.Leu26412Phe
ENST00000589042.5:c.106431A>T (TTN) MANE Select	ENSP00000467141.1:p.Leu35477Phe
ENST00000591111.5:c.101508A>T (TTN)	ENSP00000465570.1:p.Leu33836Phe
ENST00000615779.4:c.101508A>T (TTN)	ENSP00000483597.1:p.Leu33836Phe
NM_001256850.1:c.101508A>T (TTN)	NP_001243779.1:p.Leu33836Phe
NM_001267550.2:c.106431A>T (TTN) MANE Select	NP_001254479.2:p.Leu35477Phe
NM_003319.4:c.79236A>T (TTN)	NP_003310.4:p.Leu26412Phe
NM_133378.4:c.98727A>T (TTN)	NP_596869.4:p.Leu32909Phe
NM_133432.3:c.79611A>T (TTN)	NP_597676.3:p.Leu26537Phe
NM_133437.4:c.79812A>T (TTN)	NP_597681.4:p.Leu26604Phe
NR_038271.1:n.446+6424T>A (TTN-AS1)
NR_038272.1:n.220-5672T>A (TTN-AS1)
XM_011511729.1:c.105528A>T (TTN)	XP_011510031.1:p.Leu35176Phe
XM_011511730.1:c.79422A>T (TTN)	XP_011510032.1:p.Leu26474Phe
XM_011511731.1:c.79281A>T (TTN)	XP_011510033.1:p.Leu26427Phe
XM_017004819.1:c.105324A>T (TTN)	XP_016860308.1:p.Leu35108Phe
XM_017004820.1:c.100722A>T (TTN)	XP_016860309.1:p.Leu33574Phe
XM_017004821.1:c.100719A>T (TTN)	XP_016860310.1:p.Leu33573Phe
XM_017004822.1:c.97761A>T (TTN)	XP_016860311.1:p.Leu32587Phe
XM_017004823.1:c.79377A>T (TTN)	XP_016860312.1:p.Leu26459Phe
XM_024453094.1:c.100872A>T (TTN)	XP_024308862.1:p.Leu33624Phe
XM_024453095.1:c.100869A>T (TTN)	XP_024308863.1:p.Leu33623Phe
XM_024453096.1:c.100302A>T (TTN)	XP_024308864.1:p.Leu33434Phe
XM_024453097.1:c.97644A>T (TTN)	XP_024308865.1:p.Leu32548Phe
XM_024453098.1:c.97563A>T (TTN)	XP_024308866.1:p.Leu32521Phe
XM_024453099.1:c.79326A>T (TTN)	XP_024308867.1:p.Leu26442Phe
XM_024453100.1:c.69180A>T (TTN)	XP_024308868.1:p.Leu23060Phe