Canonical Allele Identifier: CA349503297

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178551732-C-T
• MyVariant Identifiers: chr2:g.179416459C>T (hg19) ; chr2:g.178551732C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178551732C>T , CM000664.2:g.178551732C>T	GRCh38
NC_000002.11:g.179416459C>T , CM000664.1:g.179416459C>T	GRCh37
NC_000002.10:g.179124705C>T	NCBI36
NG_011618.3:g.284071G>A , LRG_391:g.284071G>A
NG_051363.1:g.33906C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.83464G>A (TTN)	ENSP00000343764.6:p.Val27822Ile
ENST00000342175.11:c.64549G>A (TTN)	ENSP00000340554.6:p.Val21517Ile
ENST00000359218.10:c.64348G>A (TTN)	ENSP00000352154.5:p.Val21450Ile
ENST00000342175.10:c.64549G>A (TTN)	ENSP00000340554.6:p.Val21517Ile
ENST00000342992.10:c.83464G>A (TTN)	ENSP00000343764.6:p.Val27822Ile
ENST00000359218.9:c.64348G>A (TTN)	ENSP00000352154.5:p.Val21450Ile
ENST00000460472.6:c.63973G>A (TTN)	ENSP00000434586.1:p.Val21325Ile
ENST00000589042.5:c.91168G>A (TTN) MANE Select	ENSP00000467141.1:p.Val30390Ile
ENST00000591111.5:c.86245G>A (TTN)	ENSP00000465570.1:p.Val28749Ile
ENST00000615779.4:c.86245G>A (TTN)	ENSP00000483597.1:p.Val28749Ile
NM_001256850.1:c.86245G>A (TTN)	NP_001243779.1:p.Val28749Ile
NM_001267550.2:c.91168G>A (TTN) MANE Select	NP_001254479.2:p.Val30390Ile
NM_003319.4:c.63973G>A (TTN)	NP_003310.4:p.Val21325Ile
NM_133378.4:c.83464G>A (TTN)	NP_596869.4:p.Val27822Ile
NM_133432.3:c.64348G>A (TTN)	NP_597676.3:p.Val21450Ile
NM_133437.4:c.64549G>A (TTN)	NP_597681.4:p.Val21517Ile
NR_038271.1:n.447-19568C>T (TTN-AS1)
NR_038272.1:n.2043+9371C>T (TTN-AS1)
XM_011511729.1:c.90265G>A (TTN)	XP_011510031.1:p.Val30089Ile
XM_011511730.1:c.64159G>A (TTN)	XP_011510032.1:p.Val21387Ile
XM_011511731.1:c.64018G>A (TTN)	XP_011510033.1:p.Val21340Ile
XM_017004819.1:c.90061G>A (TTN)	XP_016860308.1:p.Val30021Ile
XM_017004820.1:c.85459G>A (TTN)	XP_016860309.1:p.Val28487Ile
XM_017004821.1:c.85456G>A (TTN)	XP_016860310.1:p.Val28486Ile
XM_017004822.1:c.82498G>A (TTN)	XP_016860311.1:p.Val27500Ile
XM_017004823.1:c.64114G>A (TTN)	XP_016860312.1:p.Val21372Ile
XM_024453094.1:c.85609G>A (TTN)	XP_024308862.1:p.Val28537Ile
XM_024453095.1:c.85606G>A (TTN)	XP_024308863.1:p.Val28536Ile
XM_024453096.1:c.85039G>A (TTN)	XP_024308864.1:p.Val28347Ile
XM_024453097.1:c.82381G>A (TTN)	XP_024308865.1:p.Val27461Ile
XM_024453098.1:c.82300G>A (TTN)	XP_024308866.1:p.Val27434Ile
XM_024453099.1:c.64063G>A (TTN)	XP_024308867.1:p.Val21355Ile
XM_024453100.1:c.53917G>A (TTN)	XP_024308868.1:p.Val17973Ile