Canonical Allele Identifier: CA349496332

Gene: TTN TTN-AS1

Linked Data

• COSMIC: COSM5395101 ; COSM5395102 ; COSM5395103 ; COSM5395104
• MyVariant Identifiers: chr2:g.179414582C>T (hg19) ; chr2:g.178549855C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178549855C>T , CM000664.2:g.178549855C>T	GRCh38
NC_000002.11:g.179414582C>T , CM000664.1:g.179414582C>T	GRCh37
NC_000002.10:g.179122828C>T	NCBI36
NG_011618.3:g.285948G>A , LRG_391:g.285948G>A
NG_051363.1:g.32029C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.84163G>A (TTN)	ENSP00000343764.6:p.Val28055Ile
ENST00000342175.11:c.65248G>A (TTN)	ENSP00000340554.6:p.Val21750Ile
ENST00000359218.10:c.65047G>A (TTN)	ENSP00000352154.5:p.Val21683Ile
ENST00000342175.10:c.65248G>A (TTN)	ENSP00000340554.6:p.Val21750Ile
ENST00000342992.10:c.84163G>A (TTN)	ENSP00000343764.6:p.Val28055Ile
ENST00000359218.9:c.65047G>A (TTN)	ENSP00000352154.5:p.Val21683Ile
ENST00000460472.6:c.64672G>A (TTN)	ENSP00000434586.1:p.Val21558Ile
ENST00000589042.5:c.91867G>A (TTN) MANE Select	ENSP00000467141.1:p.Val30623Ile
ENST00000591111.5:c.86944G>A (TTN)	ENSP00000465570.1:p.Val28982Ile
ENST00000615779.4:c.86944G>A (TTN)	ENSP00000483597.1:p.Val28982Ile
NM_001256850.1:c.86944G>A (TTN)	NP_001243779.1:p.Val28982Ile
NM_001267550.2:c.91867G>A (TTN) MANE Select	NP_001254479.2:p.Val30623Ile
NM_003319.4:c.64672G>A (TTN)	NP_003310.4:p.Val21558Ile
NM_133378.4:c.84163G>A (TTN)	NP_596869.4:p.Val28055Ile
NM_133432.3:c.65047G>A (TTN)	NP_597676.3:p.Val21683Ile
NM_133437.4:c.65248G>A (TTN)	NP_597681.4:p.Val21750Ile
NR_038271.1:n.447-21445C>T (TTN-AS1)
NR_038272.1:n.2043+7494C>T (TTN-AS1)
XM_011511729.1:c.90964G>A (TTN)	XP_011510031.1:p.Val30322Ile
XM_011511730.1:c.64858G>A (TTN)	XP_011510032.1:p.Val21620Ile
XM_011511731.1:c.64717G>A (TTN)	XP_011510033.1:p.Val21573Ile
XM_017004819.1:c.90760G>A (TTN)	XP_016860308.1:p.Val30254Ile
XM_017004820.1:c.86158G>A (TTN)	XP_016860309.1:p.Val28720Ile
XM_017004821.1:c.86155G>A (TTN)	XP_016860310.1:p.Val28719Ile
XM_017004822.1:c.83197G>A (TTN)	XP_016860311.1:p.Val27733Ile
XM_017004823.1:c.64813G>A (TTN)	XP_016860312.1:p.Val21605Ile
XM_024453094.1:c.86308G>A (TTN)	XP_024308862.1:p.Val28770Ile
XM_024453095.1:c.86305G>A (TTN)	XP_024308863.1:p.Val28769Ile
XM_024453096.1:c.85738G>A (TTN)	XP_024308864.1:p.Val28580Ile
XM_024453097.1:c.83080G>A (TTN)	XP_024308865.1:p.Val27694Ile
XM_024453098.1:c.82999G>A (TTN)	XP_024308866.1:p.Val27667Ile
XM_024453099.1:c.64762G>A (TTN)	XP_024308867.1:p.Val21588Ile
XM_024453100.1:c.54616G>A (TTN)	XP_024308868.1:p.Val18206Ile