Canonical Allele Identifier: CA349502598

Gene: TTN TTN-AS1

Linked Data

• COSMIC: COSM5650353 ; COSM5650354 ; COSM5650355 ; COSM5650356
• MyVariant Identifiers: chr2:g.179416369C>T (hg19) ; chr2:g.178551642C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178551642C>T , CM000664.2:g.178551642C>T	GRCh38
NC_000002.11:g.179416369C>T , CM000664.1:g.179416369C>T	GRCh37
NC_000002.10:g.179124615C>T	NCBI36
NG_011618.3:g.284161G>A , LRG_391:g.284161G>A
NG_051363.1:g.33816C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.83554G>A (TTN)	ENSP00000343764.6:p.Val27852Ile
ENST00000342175.11:c.64639G>A (TTN)	ENSP00000340554.6:p.Val21547Ile
ENST00000359218.10:c.64438G>A (TTN)	ENSP00000352154.5:p.Val21480Ile
ENST00000342175.10:c.64639G>A (TTN)	ENSP00000340554.6:p.Val21547Ile
ENST00000342992.10:c.83554G>A (TTN)	ENSP00000343764.6:p.Val27852Ile
ENST00000359218.9:c.64438G>A (TTN)	ENSP00000352154.5:p.Val21480Ile
ENST00000460472.6:c.64063G>A (TTN)	ENSP00000434586.1:p.Val21355Ile
ENST00000589042.5:c.91258G>A (TTN) MANE Select	ENSP00000467141.1:p.Val30420Ile
ENST00000591111.5:c.86335G>A (TTN)	ENSP00000465570.1:p.Val28779Ile
ENST00000615779.4:c.86335G>A (TTN)	ENSP00000483597.1:p.Val28779Ile
NM_001256850.1:c.86335G>A (TTN)	NP_001243779.1:p.Val28779Ile
NM_001267550.2:c.91258G>A (TTN) MANE Select	NP_001254479.2:p.Val30420Ile
NM_003319.4:c.64063G>A (TTN)	NP_003310.4:p.Val21355Ile
NM_133378.4:c.83554G>A (TTN)	NP_596869.4:p.Val27852Ile
NM_133432.3:c.64438G>A (TTN)	NP_597676.3:p.Val21480Ile
NM_133437.4:c.64639G>A (TTN)	NP_597681.4:p.Val21547Ile
NR_038271.1:n.447-19658C>T (TTN-AS1)
NR_038272.1:n.2043+9281C>T (TTN-AS1)
XM_011511729.1:c.90355G>A (TTN)	XP_011510031.1:p.Val30119Ile
XM_011511730.1:c.64249G>A (TTN)	XP_011510032.1:p.Val21417Ile
XM_011511731.1:c.64108G>A (TTN)	XP_011510033.1:p.Val21370Ile
XM_017004819.1:c.90151G>A (TTN)	XP_016860308.1:p.Val30051Ile
XM_017004820.1:c.85549G>A (TTN)	XP_016860309.1:p.Val28517Ile
XM_017004821.1:c.85546G>A (TTN)	XP_016860310.1:p.Val28516Ile
XM_017004822.1:c.82588G>A (TTN)	XP_016860311.1:p.Val27530Ile
XM_017004823.1:c.64204G>A (TTN)	XP_016860312.1:p.Val21402Ile
XM_024453094.1:c.85699G>A (TTN)	XP_024308862.1:p.Val28567Ile
XM_024453095.1:c.85696G>A (TTN)	XP_024308863.1:p.Val28566Ile
XM_024453096.1:c.85129G>A (TTN)	XP_024308864.1:p.Val28377Ile
XM_024453097.1:c.82471G>A (TTN)	XP_024308865.1:p.Val27491Ile
XM_024453098.1:c.82390G>A (TTN)	XP_024308866.1:p.Val27464Ile
XM_024453099.1:c.64153G>A (TTN)	XP_024308867.1:p.Val21385Ile
XM_024453100.1:c.54007G>A (TTN)	XP_024308868.1:p.Val18003Ile