Canonical Allele Identifier: CA349543403

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178559644-C-T
• MyVariant Identifiers: chr2:g.179424371C>T (hg19) ; chr2:g.178559644C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178559644C>T , CM000664.2:g.178559644C>T	GRCh38
NC_000002.11:g.179424371C>T , CM000664.1:g.179424371C>T	GRCh37
NC_000002.10:g.179132617C>T	NCBI36
NG_011618.3:g.276159G>A , LRG_391:g.276159G>A
NG_051363.1:g.41818C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.78784G>A (TTN)	ENSP00000343764.6:p.Val26262Ile
ENST00000342175.11:c.59869G>A (TTN)	ENSP00000340554.6:p.Val19957Ile
ENST00000359218.10:c.59668G>A (TTN)	ENSP00000352154.5:p.Val19890Ile
ENST00000342175.10:c.59869G>A (TTN)	ENSP00000340554.6:p.Val19957Ile
ENST00000342992.10:c.78784G>A (TTN)	ENSP00000343764.6:p.Val26262Ile
ENST00000359218.9:c.59668G>A (TTN)	ENSP00000352154.5:p.Val19890Ile
ENST00000460472.6:c.59293G>A (TTN)	ENSP00000434586.1:p.Val19765Ile
ENST00000589042.5:c.86488G>A (TTN) MANE Select	ENSP00000467141.1:p.Val28830Ile
ENST00000591111.5:c.81565G>A (TTN)	ENSP00000465570.1:p.Val27189Ile
ENST00000615779.4:c.81565G>A (TTN)	ENSP00000483597.1:p.Val27189Ile
NM_001256850.1:c.81565G>A (TTN)	NP_001243779.1:p.Val27189Ile
NM_001267550.2:c.86488G>A (TTN) MANE Select	NP_001254479.2:p.Val28830Ile
NM_003319.4:c.59293G>A (TTN)	NP_003310.4:p.Val19765Ile
NM_133378.4:c.78784G>A (TTN)	NP_596869.4:p.Val26262Ile
NM_133432.3:c.59668G>A (TTN)	NP_597676.3:p.Val19890Ile
NM_133437.4:c.59869G>A (TTN)	NP_597681.4:p.Val19957Ile
NR_038271.1:n.447-11656C>T (TTN-AS1)
NR_038272.1:n.2043+17283C>T (TTN-AS1)
XM_011511729.1:c.85585G>A (TTN)	XP_011510031.1:p.Val28529Ile
XM_011511730.1:c.59479G>A (TTN)	XP_011510032.1:p.Val19827Ile
XM_011511731.1:c.59338G>A (TTN)	XP_011510033.1:p.Val19780Ile
XM_017004819.1:c.85381G>A (TTN)	XP_016860308.1:p.Val28461Ile
XM_017004820.1:c.80779G>A (TTN)	XP_016860309.1:p.Val26927Ile
XM_017004821.1:c.80776G>A (TTN)	XP_016860310.1:p.Val26926Ile
XM_017004822.1:c.77818G>A (TTN)	XP_016860311.1:p.Val25940Ile
XM_017004823.1:c.59434G>A (TTN)	XP_016860312.1:p.Val19812Ile
XM_024453094.1:c.80929G>A (TTN)	XP_024308862.1:p.Val26977Ile
XM_024453095.1:c.80926G>A (TTN)	XP_024308863.1:p.Val26976Ile
XM_024453096.1:c.80359G>A (TTN)	XP_024308864.1:p.Val26787Ile
XM_024453097.1:c.77701G>A (TTN)	XP_024308865.1:p.Val25901Ile
XM_024453098.1:c.77620G>A (TTN)	XP_024308866.1:p.Val25874Ile
XM_024453099.1:c.59383G>A (TTN)	XP_024308867.1:p.Val19795Ile
XM_024453100.1:c.49237G>A (TTN)	XP_024308868.1:p.Val16413Ile