Canonical Allele Identifier: CA349610713

Gene: TTN TTN-AS1

Linked Data

• COSMIC: COSM5058350 ; COSM5058351 ; COSM5058352 ; COSM5058353
• MyVariant Identifiers: chr2:g.179433467G>A (hg19) ; chr2:g.178568740G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178568740G>A , CM000664.2:g.178568740G>A	GRCh38
NC_000002.11:g.179433467G>A , CM000664.1:g.179433467G>A	GRCh37
NC_000002.10:g.179141713G>A	NCBI36
NG_011618.3:g.267063C>T , LRG_391:g.267063C>T
NG_051363.1:g.50914G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.69688C>T (TTN)	ENSP00000343764.6:p.Pro23230Ser
ENST00000342175.11:c.50773C>T (TTN)	ENSP00000340554.6:p.Pro16925Ser
ENST00000359218.10:c.50572C>T (TTN)	ENSP00000352154.5:p.Pro16858Ser
ENST00000342175.10:c.50773C>T (TTN)	ENSP00000340554.6:p.Pro16925Ser
ENST00000342992.10:c.69688C>T (TTN)	ENSP00000343764.6:p.Pro23230Ser
ENST00000359218.9:c.50572C>T (TTN)	ENSP00000352154.5:p.Pro16858Ser
ENST00000460472.6:c.50197C>T (TTN)	ENSP00000434586.1:p.Pro16733Ser
ENST00000589042.5:c.77392C>T (TTN) MANE Select	ENSP00000467141.1:p.Pro25798Ser
ENST00000591111.5:c.72469C>T (TTN)	ENSP00000465570.1:p.Pro24157Ser
ENST00000615779.4:c.72469C>T (TTN)	ENSP00000483597.1:p.Pro24157Ser
NM_001256850.1:c.72469C>T (TTN)	NP_001243779.1:p.Pro24157Ser
NM_001267550.2:c.77392C>T (TTN) MANE Select	NP_001254479.2:p.Pro25798Ser
NM_003319.4:c.50197C>T (TTN)	NP_003310.4:p.Pro16733Ser
NM_133378.4:c.69688C>T (TTN)	NP_596869.4:p.Pro23230Ser
NM_133432.3:c.50572C>T (TTN)	NP_597676.3:p.Pro16858Ser
NM_133437.4:c.50773C>T (TTN)	NP_597681.4:p.Pro16925Ser
NR_038271.1:n.447-2560G>A (TTN-AS1)
NR_038272.1:n.2044-13832G>A (TTN-AS1)
XM_011511729.1:c.76489C>T (TTN)	XP_011510031.1:p.Pro25497Ser
XM_011511730.1:c.50383C>T (TTN)	XP_011510032.1:p.Pro16795Ser
XM_011511731.1:c.50242C>T (TTN)	XP_011510033.1:p.Pro16748Ser
XM_017004819.1:c.76285C>T (TTN)	XP_016860308.1:p.Pro25429Ser
XM_017004820.1:c.71683C>T (TTN)	XP_016860309.1:p.Pro23895Ser
XM_017004821.1:c.71680C>T (TTN)	XP_016860310.1:p.Pro23894Ser
XM_017004822.1:c.68722C>T (TTN)	XP_016860311.1:p.Pro22908Ser
XM_017004823.1:c.50338C>T (TTN)	XP_016860312.1:p.Pro16780Ser
XM_024453094.1:c.71833C>T (TTN)	XP_024308862.1:p.Pro23945Ser
XM_024453095.1:c.71830C>T (TTN)	XP_024308863.1:p.Pro23944Ser
XM_024453096.1:c.71263C>T (TTN)	XP_024308864.1:p.Pro23755Ser
XM_024453097.1:c.68605C>T (TTN)	XP_024308865.1:p.Pro22869Ser
XM_024453098.1:c.68524C>T (TTN)	XP_024308866.1:p.Pro22842Ser
XM_024453099.1:c.50287C>T (TTN)	XP_024308867.1:p.Pro16763Ser
XM_024453100.1:c.40141C>T (TTN)	XP_024308868.1:p.Pro13381Ser