Canonical Allele Identifier: CA349479909

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179412466A>T (hg19) ; chr2:g.178547739A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178547739A>T , CM000664.2:g.178547739A>T	GRCh38
NC_000002.11:g.179412466A>T , CM000664.1:g.179412466A>T	GRCh37
NC_000002.10:g.179120712A>T	NCBI36
NG_011618.3:g.288064T>A , LRG_391:g.288064T>A
NG_051363.1:g.29913A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.86183T>A (TTN)	ENSP00000343764.6:p.Val28728Asp
ENST00000342175.11:c.67268T>A (TTN)	ENSP00000340554.6:p.Val22423Asp
ENST00000359218.10:c.67067T>A (TTN)	ENSP00000352154.5:p.Val22356Asp
ENST00000342175.10:c.67268T>A (TTN)	ENSP00000340554.6:p.Val22423Asp
ENST00000342992.10:c.86183T>A (TTN)	ENSP00000343764.6:p.Val28728Asp
ENST00000359218.9:c.67067T>A (TTN)	ENSP00000352154.5:p.Val22356Asp
ENST00000460472.6:c.66692T>A (TTN)	ENSP00000434586.1:p.Val22231Asp
ENST00000589042.5:c.93887T>A (TTN) MANE Select	ENSP00000467141.1:p.Val31296Asp
ENST00000591111.5:c.88964T>A (TTN)	ENSP00000465570.1:p.Val29655Asp
ENST00000615779.4:c.88964T>A (TTN)	ENSP00000483597.1:p.Val29655Asp
NM_001256850.1:c.88964T>A (TTN)	NP_001243779.1:p.Val29655Asp
NM_001267550.2:c.93887T>A (TTN) MANE Select	NP_001254479.2:p.Val31296Asp
NM_003319.4:c.66692T>A (TTN)	NP_003310.4:p.Val22231Asp
NM_133378.4:c.86183T>A (TTN)	NP_596869.4:p.Val28728Asp
NM_133432.3:c.67067T>A (TTN)	NP_597676.3:p.Val22356Asp
NM_133437.4:c.67268T>A (TTN)	NP_597681.4:p.Val22423Asp
NR_038271.1:n.447-23561A>T (TTN-AS1)
NR_038272.1:n.2043+5378A>T (TTN-AS1)
XM_011511729.1:c.92984T>A (TTN)	XP_011510031.1:p.Val30995Asp
XM_011511730.1:c.66878T>A (TTN)	XP_011510032.1:p.Val22293Asp
XM_011511731.1:c.66737T>A (TTN)	XP_011510033.1:p.Val22246Asp
XM_017004819.1:c.92780T>A (TTN)	XP_016860308.1:p.Val30927Asp
XM_017004820.1:c.88178T>A (TTN)	XP_016860309.1:p.Val29393Asp
XM_017004821.1:c.88175T>A (TTN)	XP_016860310.1:p.Val29392Asp
XM_017004822.1:c.85217T>A (TTN)	XP_016860311.1:p.Val28406Asp
XM_017004823.1:c.66833T>A (TTN)	XP_016860312.1:p.Val22278Asp
XM_024453094.1:c.88328T>A (TTN)	XP_024308862.1:p.Val29443Asp
XM_024453095.1:c.88325T>A (TTN)	XP_024308863.1:p.Val29442Asp
XM_024453096.1:c.87758T>A (TTN)	XP_024308864.1:p.Val29253Asp
XM_024453097.1:c.85100T>A (TTN)	XP_024308865.1:p.Val28367Asp
XM_024453098.1:c.85019T>A (TTN)	XP_024308866.1:p.Val28340Asp
XM_024453099.1:c.66782T>A (TTN)	XP_024308867.1:p.Val22261Asp
XM_024453100.1:c.56636T>A (TTN)	XP_024308868.1:p.Val18879Asp