Canonical Allele Identifier: CA1139657510

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 915559
• ClinVar RCV Id: RCV001170342
• dbSNP Id: rs1709484351

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178574802_178574805dup , CM000664.2:g.178574802_178574805dup	GRCh38
NC_000002.11:g.179439529_179439532dup , CM000664.1:g.179439529_179439532dup	GRCh37
NC_000002.10:g.179147775_179147778dup	NCBI36
NG_011618.3:g.261000_261003dup , LRG_391:g.261000_261003dup
NG_051363.1:g.56976_56979dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.63625_63628dup (TTN)	ENSP00000343764.6:p.Ala21210ValfsTer11
ENST00000342175.11:c.44710_44713dup (TTN)	ENSP00000340554.6:p.Ala14905ValfsTer11
ENST00000359218.10:c.44509_44512dup (TTN)	ENSP00000352154.5:p.Ala14838ValfsTer11
ENST00000342175.10:c.44710_44713dup (TTN)	ENSP00000340554.6:p.Ala14905ValfsTer11
ENST00000342992.10:c.63625_63628dup (TTN)	ENSP00000343764.6:p.Ala21210ValfsTer11
ENST00000359218.9:c.44509_44512dup (TTN)	ENSP00000352154.5:p.Ala14838ValfsTer11
ENST00000460472.6:c.44134_44137dup (TTN)	ENSP00000434586.1:p.Ala14713ValfsTer11
ENST00000589042.5:c.71329_71332dup (TTN) MANE Select	ENSP00000467141.1:p.Ala23778ValfsTer11
ENST00000591111.5:c.66406_66409dup (TTN)	ENSP00000465570.1:p.Ala22137ValfsTer11
ENST00000615779.4:c.66406_66409dup (TTN)	ENSP00000483597.1:p.Ala22137ValfsTer11
NM_001256850.1:c.66406_66409dup (TTN)	NP_001243779.1:p.Ala22137ValfsTer11
NM_001267550.2:c.71329_71332dup (TTN) MANE Select	NP_001254479.2:p.Ala23778ValfsTer11
NM_003319.4:c.44134_44137dup (TTN)	NP_003310.4:p.Ala14713ValfsTer11
NM_133378.4:c.63625_63628dup (TTN)	NP_596869.4:p.Ala21210ValfsTer11
NM_133432.3:c.44509_44512dup (TTN)	NP_597676.3:p.Ala14838ValfsTer11
NM_133437.4:c.44710_44713dup (TTN)	NP_597681.4:p.Ala14905ValfsTer11
NR_038271.1:n.596+3353_596+3356dup (TTN-AS1)
NR_038272.1:n.2044-7770_2044-7767dup (TTN-AS1)
XM_011511729.1:c.70426_70429dup (TTN)	XP_011510031.1:p.Ala23477ValfsTer11
XM_011511730.1:c.44320_44323dup (TTN)	XP_011510032.1:p.Ala14775ValfsTer11
XM_011511731.1:c.44179_44182dup (TTN)	XP_011510033.1:p.Ala14728ValfsTer11
XM_017004819.1:c.70222_70225dup (TTN)	XP_016860308.1:p.Ala23409ValfsTer11
XM_017004820.1:c.65620_65623dup (TTN)	XP_016860309.1:p.Ala21875ValfsTer11
XM_017004821.1:c.65617_65620dup (TTN)	XP_016860310.1:p.Ala21874ValfsTer11
XM_017004822.1:c.62659_62662dup (TTN)	XP_016860311.1:p.Ala20888ValfsTer11
XM_017004823.1:c.44275_44278dup (TTN)	XP_016860312.1:p.Ala14760ValfsTer11
XM_024453094.1:c.65770_65773dup (TTN)	XP_024308862.1:p.Ala21925ValfsTer11
XM_024453095.1:c.65767_65770dup (TTN)	XP_024308863.1:p.Ala21924ValfsTer11
XM_024453096.1:c.65200_65203dup (TTN)	XP_024308864.1:p.Ala21735ValfsTer11
XM_024453097.1:c.62542_62545dup (TTN)	XP_024308865.1:p.Ala20849ValfsTer11
XM_024453098.1:c.62461_62464dup (TTN)	XP_024308866.1:p.Ala20822ValfsTer11
XM_024453099.1:c.44224_44227dup (TTN)	XP_024308867.1:p.Ala14743ValfsTer11
XM_024453100.1:c.34078_34081dup (TTN)	XP_024308868.1:p.Ala11361ValfsTer11