Canonical Allele Identifier: CA349495830

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179414527C>T (hg19) ; chr2:g.178549800C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178549800C>T , CM000664.2:g.178549800C>T	GRCh38
NC_000002.11:g.179414527C>T , CM000664.1:g.179414527C>T	GRCh37
NC_000002.10:g.179122773C>T	NCBI36
NG_011618.3:g.286003G>A , LRG_391:g.286003G>A
NG_051363.1:g.31974C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.84218G>A (TTN)	ENSP00000343764.6:p.Trp28073Ter
ENST00000342175.11:c.65303G>A (TTN)	ENSP00000340554.6:p.Trp21768Ter
ENST00000359218.10:c.65102G>A (TTN)	ENSP00000352154.5:p.Trp21701Ter
ENST00000342175.10:c.65303G>A (TTN)	ENSP00000340554.6:p.Trp21768Ter
ENST00000342992.10:c.84218G>A (TTN)	ENSP00000343764.6:p.Trp28073Ter
ENST00000359218.9:c.65102G>A (TTN)	ENSP00000352154.5:p.Trp21701Ter
ENST00000460472.6:c.64727G>A (TTN)	ENSP00000434586.1:p.Trp21576Ter
ENST00000589042.5:c.91922G>A (TTN) MANE Select	ENSP00000467141.1:p.Trp30641Ter
ENST00000591111.5:c.86999G>A (TTN)	ENSP00000465570.1:p.Trp29000Ter
ENST00000615779.4:c.86999G>A (TTN)	ENSP00000483597.1:p.Trp29000Ter
NM_001256850.1:c.86999G>A (TTN)	NP_001243779.1:p.Trp29000Ter
NM_001267550.2:c.91922G>A (TTN) MANE Select	NP_001254479.2:p.Trp30641Ter
NM_003319.4:c.64727G>A (TTN)	NP_003310.4:p.Trp21576Ter
NM_133378.4:c.84218G>A (TTN)	NP_596869.4:p.Trp28073Ter
NM_133432.3:c.65102G>A (TTN)	NP_597676.3:p.Trp21701Ter
NM_133437.4:c.65303G>A (TTN)	NP_597681.4:p.Trp21768Ter
NR_038271.1:n.447-21500C>T (TTN-AS1)
NR_038272.1:n.2043+7439C>T (TTN-AS1)
XM_011511729.1:c.91019G>A (TTN)	XP_011510031.1:p.Trp30340Ter
XM_011511730.1:c.64913G>A (TTN)	XP_011510032.1:p.Trp21638Ter
XM_011511731.1:c.64772G>A (TTN)	XP_011510033.1:p.Trp21591Ter
XM_017004819.1:c.90815G>A (TTN)	XP_016860308.1:p.Trp30272Ter
XM_017004820.1:c.86213G>A (TTN)	XP_016860309.1:p.Trp28738Ter
XM_017004821.1:c.86210G>A (TTN)	XP_016860310.1:p.Trp28737Ter
XM_017004822.1:c.83252G>A (TTN)	XP_016860311.1:p.Trp27751Ter
XM_017004823.1:c.64868G>A (TTN)	XP_016860312.1:p.Trp21623Ter
XM_024453094.1:c.86363G>A (TTN)	XP_024308862.1:p.Trp28788Ter
XM_024453095.1:c.86360G>A (TTN)	XP_024308863.1:p.Trp28787Ter
XM_024453096.1:c.85793G>A (TTN)	XP_024308864.1:p.Trp28598Ter
XM_024453097.1:c.83135G>A (TTN)	XP_024308865.1:p.Trp27712Ter
XM_024453098.1:c.83054G>A (TTN)	XP_024308866.1:p.Trp27685Ter
XM_024453099.1:c.64817G>A (TTN)	XP_024308867.1:p.Trp21606Ter
XM_024453100.1:c.54671G>A (TTN)	XP_024308868.1:p.Trp18224Ter