Canonical Allele Identifier: CA349504113

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178551843-C-A
• MyVariant Identifiers: chr2:g.179416570C>A (hg19) ; chr2:g.178551843C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178551843C>A , CM000664.2:g.178551843C>A	GRCh38
NC_000002.11:g.179416570C>A , CM000664.1:g.179416570C>A	GRCh37
NC_000002.10:g.179124816C>A	NCBI36
NG_011618.3:g.283960G>T , LRG_391:g.283960G>T
NG_051363.1:g.34017C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.83353G>T (TTN)	ENSP00000343764.6:p.Gly27785Cys
ENST00000342175.11:c.64438G>T (TTN)	ENSP00000340554.6:p.Gly21480Cys
ENST00000359218.10:c.64237G>T (TTN)	ENSP00000352154.5:p.Gly21413Cys
ENST00000342175.10:c.64438G>T (TTN)	ENSP00000340554.6:p.Gly21480Cys
ENST00000342992.10:c.83353G>T (TTN)	ENSP00000343764.6:p.Gly27785Cys
ENST00000359218.9:c.64237G>T (TTN)	ENSP00000352154.5:p.Gly21413Cys
ENST00000460472.6:c.63862G>T (TTN)	ENSP00000434586.1:p.Gly21288Cys
ENST00000589042.5:c.91057G>T (TTN) MANE Select	ENSP00000467141.1:p.Gly30353Cys
ENST00000591111.5:c.86134G>T (TTN)	ENSP00000465570.1:p.Gly28712Cys
ENST00000615779.4:c.86134G>T (TTN)	ENSP00000483597.1:p.Gly28712Cys
NM_001256850.1:c.86134G>T (TTN)	NP_001243779.1:p.Gly28712Cys
NM_001267550.2:c.91057G>T (TTN) MANE Select	NP_001254479.2:p.Gly30353Cys
NM_003319.4:c.63862G>T (TTN)	NP_003310.4:p.Gly21288Cys
NM_133378.4:c.83353G>T (TTN)	NP_596869.4:p.Gly27785Cys
NM_133432.3:c.64237G>T (TTN)	NP_597676.3:p.Gly21413Cys
NM_133437.4:c.64438G>T (TTN)	NP_597681.4:p.Gly21480Cys
NR_038271.1:n.447-19457C>A (TTN-AS1)
NR_038272.1:n.2043+9482C>A (TTN-AS1)
XM_011511729.1:c.90154G>T (TTN)	XP_011510031.1:p.Gly30052Cys
XM_011511730.1:c.64048G>T (TTN)	XP_011510032.1:p.Gly21350Cys
XM_011511731.1:c.63907G>T (TTN)	XP_011510033.1:p.Gly21303Cys
XM_017004819.1:c.89950G>T (TTN)	XP_016860308.1:p.Gly29984Cys
XM_017004820.1:c.85348G>T (TTN)	XP_016860309.1:p.Gly28450Cys
XM_017004821.1:c.85345G>T (TTN)	XP_016860310.1:p.Gly28449Cys
XM_017004822.1:c.82387G>T (TTN)	XP_016860311.1:p.Gly27463Cys
XM_017004823.1:c.64003G>T (TTN)	XP_016860312.1:p.Gly21335Cys
XM_024453094.1:c.85498G>T (TTN)	XP_024308862.1:p.Gly28500Cys
XM_024453095.1:c.85495G>T (TTN)	XP_024308863.1:p.Gly28499Cys
XM_024453096.1:c.84928G>T (TTN)	XP_024308864.1:p.Gly28310Cys
XM_024453097.1:c.82270G>T (TTN)	XP_024308865.1:p.Gly27424Cys
XM_024453098.1:c.82189G>T (TTN)	XP_024308866.1:p.Gly27397Cys
XM_024453099.1:c.63952G>T (TTN)	XP_024308867.1:p.Gly21318Cys
XM_024453100.1:c.53806G>T (TTN)	XP_024308868.1:p.Gly17936Cys