Canonical Allele Identifier: CA349618819

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179482948G>A (hg19) ; chr2:g.178618221G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178618221G>A , CM000664.2:g.178618221G>A	GRCh38
NC_000002.11:g.179482948G>A , CM000664.1:g.179482948G>A	GRCh37
NC_000002.10:g.179191193G>A	NCBI36
NG_011618.3:g.217582C>T , LRG_391:g.217582C>T
NG_051363.1:g.100395G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.39533C>T (TTN)	ENSP00000343764.6:p.Thr13178Ile
ENST00000342175.11:c.20618C>T (TTN)	ENSP00000340554.6:p.Thr6873Ile
ENST00000359218.10:c.20417C>T (TTN)	ENSP00000352154.5:p.Thr6806Ile
ENST00000342175.10:c.20618C>T (TTN)	ENSP00000340554.6:p.Thr6873Ile
ENST00000342992.10:c.39533C>T (TTN)	ENSP00000343764.6:p.Thr13178Ile
ENST00000359218.9:c.20417C>T (TTN)	ENSP00000352154.5:p.Thr6806Ile
ENST00000460472.6:c.20042C>T (TTN)	ENSP00000434586.1:p.Thr6681Ile
ENST00000589042.5:c.47237C>T (TTN) MANE Select	ENSP00000467141.1:p.Thr15746Ile
ENST00000591111.5:c.42314C>T (TTN)	ENSP00000465570.1:p.Thr14105Ile
ENST00000615779.4:c.42314C>T (TTN)	ENSP00000483597.1:p.Thr14105Ile
NM_001256850.1:c.42314C>T (TTN)	NP_001243779.1:p.Thr14105Ile
NM_001267550.2:c.47237C>T (TTN) MANE Select	NP_001254479.2:p.Thr15746Ile
NM_003319.4:c.20042C>T (TTN)	NP_003310.4:p.Thr6681Ile
NM_133378.4:c.39533C>T (TTN)	NP_596869.4:p.Thr13178Ile
NM_133432.3:c.20417C>T (TTN)	NP_597676.3:p.Thr6806Ile
NM_133437.4:c.20618C>T (TTN)	NP_597681.4:p.Thr6873Ile
NR_038271.1:n.1605-1532G>A (TTN-AS1)
XM_011511729.1:c.46334C>T (TTN)	XP_011510031.1:p.Thr15445Ile
XM_011511730.1:c.20228C>T (TTN)	XP_011510032.1:p.Thr6743Ile
XM_011511731.1:c.20087C>T (TTN)	XP_011510033.1:p.Thr6696Ile
XM_017004819.1:c.46130C>T (TTN)	XP_016860308.1:p.Thr15377Ile
XM_017004820.1:c.41528C>T (TTN)	XP_016860309.1:p.Thr13843Ile
XM_017004821.1:c.41525C>T (TTN)	XP_016860310.1:p.Thr13842Ile
XM_017004822.1:c.38567C>T (TTN)	XP_016860311.1:p.Thr12856Ile
XM_017004823.1:c.20183C>T (TTN)	XP_016860312.1:p.Thr6728Ile
XM_024453094.1:c.41678C>T (TTN)	XP_024308862.1:p.Thr13893Ile
XM_024453095.1:c.41675C>T (TTN)	XP_024308863.1:p.Thr13892Ile
XM_024453096.1:c.41108C>T (TTN)	XP_024308864.1:p.Thr13703Ile
XM_024453097.1:c.38450C>T (TTN)	XP_024308865.1:p.Thr12817Ile
XM_024453098.1:c.38369C>T (TTN)	XP_024308866.1:p.Thr12790Ile
XM_024453099.1:c.20132C>T (TTN)	XP_024308867.1:p.Thr6711Ile
XM_024453100.1:c.9986C>T (TTN)	XP_024308868.1:p.Thr3329Ile