Canonical Allele Identifier: CA349423326

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179444291C>T (hg19) ; chr2:g.178579564C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178579564C>T , CM000664.2:g.178579564C>T	GRCh38
NC_000002.11:g.179444291C>T , CM000664.1:g.179444291C>T	GRCh37
NC_000002.10:g.179152537C>T	NCBI36
NG_011618.3:g.256239G>A , LRG_391:g.256239G>A
NG_051363.1:g.61738C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.59929G>A (TTN)	ENSP00000343764.6:p.Val19977Ile
ENST00000342175.11:c.41014G>A (TTN)	ENSP00000340554.6:p.Val13672Ile
ENST00000359218.10:c.40813G>A (TTN)	ENSP00000352154.5:p.Val13605Ile
ENST00000342175.10:c.41014G>A (TTN)	ENSP00000340554.6:p.Val13672Ile
ENST00000342992.10:c.59929G>A (TTN)	ENSP00000343764.6:p.Val19977Ile
ENST00000359218.9:c.40813G>A (TTN)	ENSP00000352154.5:p.Val13605Ile
ENST00000460472.6:c.40438G>A (TTN)	ENSP00000434586.1:p.Val13480Ile
ENST00000589042.5:c.67633G>A (TTN) MANE Select	ENSP00000467141.1:p.Val22545Ile
ENST00000591111.5:c.62710G>A (TTN)	ENSP00000465570.1:p.Val20904Ile
ENST00000615779.4:c.62710G>A (TTN)	ENSP00000483597.1:p.Val20904Ile
NM_001256850.1:c.62710G>A (TTN)	NP_001243779.1:p.Val20904Ile
NM_001267550.2:c.67633G>A (TTN) MANE Select	NP_001254479.2:p.Val22545Ile
NM_003319.4:c.40438G>A (TTN)	NP_003310.4:p.Val13480Ile
NM_133378.4:c.59929G>A (TTN)	NP_596869.4:p.Val19977Ile
NM_133432.3:c.40813G>A (TTN)	NP_597676.3:p.Val13605Ile
NM_133437.4:c.41014G>A (TTN)	NP_597681.4:p.Val13672Ile
NR_038271.1:n.596+8115C>T (TTN-AS1)
NR_038272.1:n.2044-3008C>T (TTN-AS1)
XM_011511729.1:c.66730G>A (TTN)	XP_011510031.1:p.Val22244Ile
XM_011511730.1:c.40624G>A (TTN)	XP_011510032.1:p.Val13542Ile
XM_011511731.1:c.40483G>A (TTN)	XP_011510033.1:p.Val13495Ile
XM_017004819.1:c.66526G>A (TTN)	XP_016860308.1:p.Val22176Ile
XM_017004820.1:c.61924G>A (TTN)	XP_016860309.1:p.Val20642Ile
XM_017004821.1:c.61921G>A (TTN)	XP_016860310.1:p.Val20641Ile
XM_017004822.1:c.58963G>A (TTN)	XP_016860311.1:p.Val19655Ile
XM_017004823.1:c.40579G>A (TTN)	XP_016860312.1:p.Val13527Ile
XM_024453094.1:c.62074G>A (TTN)	XP_024308862.1:p.Val20692Ile
XM_024453095.1:c.62071G>A (TTN)	XP_024308863.1:p.Val20691Ile
XM_024453096.1:c.61504G>A (TTN)	XP_024308864.1:p.Val20502Ile
XM_024453097.1:c.58846G>A (TTN)	XP_024308865.1:p.Val19616Ile
XM_024453098.1:c.58765G>A (TTN)	XP_024308866.1:p.Val19589Ile
XM_024453099.1:c.40528G>A (TTN)	XP_024308867.1:p.Val13510Ile
XM_024453100.1:c.30382G>A (TTN)	XP_024308868.1:p.Val10128Ile