Canonical Allele Identifier: CA349536393

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179422633T>G (hg19) ; chr2:g.178557906T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178557906T>G , CM000664.2:g.178557906T>G	GRCh38
NC_000002.11:g.179422633T>G , CM000664.1:g.179422633T>G	GRCh37
NC_000002.10:g.179130879T>G	NCBI36
NG_011618.3:g.277897A>C , LRG_391:g.277897A>C
NG_051363.1:g.40080T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.79744A>C (TTN)	ENSP00000343764.6:p.Ile26582Leu
ENST00000342175.11:c.60829A>C (TTN)	ENSP00000340554.6:p.Ile20277Leu
ENST00000359218.10:c.60628A>C (TTN)	ENSP00000352154.5:p.Ile20210Leu
ENST00000342175.10:c.60829A>C (TTN)	ENSP00000340554.6:p.Ile20277Leu
ENST00000342992.10:c.79744A>C (TTN)	ENSP00000343764.6:p.Ile26582Leu
ENST00000359218.9:c.60628A>C (TTN)	ENSP00000352154.5:p.Ile20210Leu
ENST00000460472.6:c.60253A>C (TTN)	ENSP00000434586.1:p.Ile20085Leu
ENST00000589042.5:c.87448A>C (TTN) MANE Select	ENSP00000467141.1:p.Ile29150Leu
ENST00000591111.5:c.82525A>C (TTN)	ENSP00000465570.1:p.Ile27509Leu
ENST00000615779.4:c.82525A>C (TTN)	ENSP00000483597.1:p.Ile27509Leu
NM_001256850.1:c.82525A>C (TTN)	NP_001243779.1:p.Ile27509Leu
NM_001267550.2:c.87448A>C (TTN) MANE Select	NP_001254479.2:p.Ile29150Leu
NM_003319.4:c.60253A>C (TTN)	NP_003310.4:p.Ile20085Leu
NM_133378.4:c.79744A>C (TTN)	NP_596869.4:p.Ile26582Leu
NM_133432.3:c.60628A>C (TTN)	NP_597676.3:p.Ile20210Leu
NM_133437.4:c.60829A>C (TTN)	NP_597681.4:p.Ile20277Leu
NR_038271.1:n.447-13394T>G (TTN-AS1)
NR_038272.1:n.2043+15545T>G (TTN-AS1)
XM_011511729.1:c.86545A>C (TTN)	XP_011510031.1:p.Ile28849Leu
XM_011511730.1:c.60439A>C (TTN)	XP_011510032.1:p.Ile20147Leu
XM_011511731.1:c.60298A>C (TTN)	XP_011510033.1:p.Ile20100Leu
XM_017004819.1:c.86341A>C (TTN)	XP_016860308.1:p.Ile28781Leu
XM_017004820.1:c.81739A>C (TTN)	XP_016860309.1:p.Ile27247Leu
XM_017004821.1:c.81736A>C (TTN)	XP_016860310.1:p.Ile27246Leu
XM_017004822.1:c.78778A>C (TTN)	XP_016860311.1:p.Ile26260Leu
XM_017004823.1:c.60394A>C (TTN)	XP_016860312.1:p.Ile20132Leu
XM_024453094.1:c.81889A>C (TTN)	XP_024308862.1:p.Ile27297Leu
XM_024453095.1:c.81886A>C (TTN)	XP_024308863.1:p.Ile27296Leu
XM_024453096.1:c.81319A>C (TTN)	XP_024308864.1:p.Ile27107Leu
XM_024453097.1:c.78661A>C (TTN)	XP_024308865.1:p.Ile26221Leu
XM_024453098.1:c.78580A>C (TTN)	XP_024308866.1:p.Ile26194Leu
XM_024453099.1:c.60343A>C (TTN)	XP_024308867.1:p.Ile20115Leu
XM_024453100.1:c.50197A>C (TTN)	XP_024308868.1:p.Ile16733Leu