Canonical Allele Identifier: CA349510872

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178552473-C-A
• MyVariant Identifiers: chr2:g.179417200C>A (hg19) ; chr2:g.178552473C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178552473C>A , CM000664.2:g.178552473C>A	GRCh38
NC_000002.11:g.179417200C>A , CM000664.1:g.179417200C>A	GRCh37
NC_000002.10:g.179125446C>A	NCBI36
NG_011618.3:g.283330G>T , LRG_391:g.283330G>T
NG_051363.1:g.34647C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.82723G>T (TTN)	ENSP00000343764.6:p.Val27575Leu
ENST00000342175.11:c.63808G>T (TTN)	ENSP00000340554.6:p.Val21270Leu
ENST00000359218.10:c.63607G>T (TTN)	ENSP00000352154.5:p.Val21203Leu
ENST00000342175.10:c.63808G>T (TTN)	ENSP00000340554.6:p.Val21270Leu
ENST00000342992.10:c.82723G>T (TTN)	ENSP00000343764.6:p.Val27575Leu
ENST00000359218.9:c.63607G>T (TTN)	ENSP00000352154.5:p.Val21203Leu
ENST00000460472.6:c.63232G>T (TTN)	ENSP00000434586.1:p.Val21078Leu
ENST00000589042.5:c.90427G>T (TTN) MANE Select	ENSP00000467141.1:p.Val30143Leu
ENST00000591111.5:c.85504G>T (TTN)	ENSP00000465570.1:p.Val28502Leu
ENST00000615779.4:c.85504G>T (TTN)	ENSP00000483597.1:p.Val28502Leu
NM_001256850.1:c.85504G>T (TTN)	NP_001243779.1:p.Val28502Leu
NM_001267550.2:c.90427G>T (TTN) MANE Select	NP_001254479.2:p.Val30143Leu
NM_003319.4:c.63232G>T (TTN)	NP_003310.4:p.Val21078Leu
NM_133378.4:c.82723G>T (TTN)	NP_596869.4:p.Val27575Leu
NM_133432.3:c.63607G>T (TTN)	NP_597676.3:p.Val21203Leu
NM_133437.4:c.63808G>T (TTN)	NP_597681.4:p.Val21270Leu
NR_038271.1:n.447-18827C>A (TTN-AS1)
NR_038272.1:n.2043+10112C>A (TTN-AS1)
XM_011511729.1:c.89524G>T (TTN)	XP_011510031.1:p.Val29842Leu
XM_011511730.1:c.63418G>T (TTN)	XP_011510032.1:p.Val21140Leu
XM_011511731.1:c.63277G>T (TTN)	XP_011510033.1:p.Val21093Leu
XM_017004819.1:c.89320G>T (TTN)	XP_016860308.1:p.Val29774Leu
XM_017004820.1:c.84718G>T (TTN)	XP_016860309.1:p.Val28240Leu
XM_017004821.1:c.84715G>T (TTN)	XP_016860310.1:p.Val28239Leu
XM_017004822.1:c.81757G>T (TTN)	XP_016860311.1:p.Val27253Leu
XM_017004823.1:c.63373G>T (TTN)	XP_016860312.1:p.Val21125Leu
XM_024453094.1:c.84868G>T (TTN)	XP_024308862.1:p.Val28290Leu
XM_024453095.1:c.84865G>T (TTN)	XP_024308863.1:p.Val28289Leu
XM_024453096.1:c.84298G>T (TTN)	XP_024308864.1:p.Val28100Leu
XM_024453097.1:c.81640G>T (TTN)	XP_024308865.1:p.Val27214Leu
XM_024453098.1:c.81559G>T (TTN)	XP_024308866.1:p.Val27187Leu
XM_024453099.1:c.63322G>T (TTN)	XP_024308867.1:p.Val21108Leu
XM_024453100.1:c.53176G>T (TTN)	XP_024308868.1:p.Val17726Leu