Canonical Allele Identifier: CA349470650

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179411401A>T (hg19) ; chr2:g.178546674A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178546674A>T , CM000664.2:g.178546674A>T	GRCh38
NC_000002.11:g.179411401A>T , CM000664.1:g.179411401A>T	GRCh37
NC_000002.10:g.179119647A>T	NCBI36
NG_011618.3:g.289129T>A , LRG_391:g.289129T>A
NG_051363.1:g.28848A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.87050T>A (TTN)	ENSP00000343764.6:p.Leu29017Ter
ENST00000342175.11:c.68135T>A (TTN)	ENSP00000340554.6:p.Leu22712Ter
ENST00000359218.10:c.67934T>A (TTN)	ENSP00000352154.5:p.Leu22645Ter
ENST00000342175.10:c.68135T>A (TTN)	ENSP00000340554.6:p.Leu22712Ter
ENST00000342992.10:c.87050T>A (TTN)	ENSP00000343764.6:p.Leu29017Ter
ENST00000359218.9:c.67934T>A (TTN)	ENSP00000352154.5:p.Leu22645Ter
ENST00000460472.6:c.67559T>A (TTN)	ENSP00000434586.1:p.Leu22520Ter
ENST00000589042.5:c.94754T>A (TTN) MANE Select	ENSP00000467141.1:p.Leu31585Ter
ENST00000591111.5:c.89831T>A (TTN)	ENSP00000465570.1:p.Leu29944Ter
ENST00000615779.4:c.89831T>A (TTN)	ENSP00000483597.1:p.Leu29944Ter
NM_001256850.1:c.89831T>A (TTN)	NP_001243779.1:p.Leu29944Ter
NM_001267550.2:c.94754T>A (TTN) MANE Select	NP_001254479.2:p.Leu31585Ter
NM_003319.4:c.67559T>A (TTN)	NP_003310.4:p.Leu22520Ter
NM_133378.4:c.87050T>A (TTN)	NP_596869.4:p.Leu29017Ter
NM_133432.3:c.67934T>A (TTN)	NP_597676.3:p.Leu22645Ter
NM_133437.4:c.68135T>A (TTN)	NP_597681.4:p.Leu22712Ter
NR_038271.1:n.446+23038A>T (TTN-AS1)
NR_038272.1:n.2043+4313A>T (TTN-AS1)
XM_011511729.1:c.93851T>A (TTN)	XP_011510031.1:p.Leu31284Ter
XM_011511730.1:c.67745T>A (TTN)	XP_011510032.1:p.Leu22582Ter
XM_011511731.1:c.67604T>A (TTN)	XP_011510033.1:p.Leu22535Ter
XM_017004819.1:c.93647T>A (TTN)	XP_016860308.1:p.Leu31216Ter
XM_017004820.1:c.89045T>A (TTN)	XP_016860309.1:p.Leu29682Ter
XM_017004821.1:c.89042T>A (TTN)	XP_016860310.1:p.Leu29681Ter
XM_017004822.1:c.86084T>A (TTN)	XP_016860311.1:p.Leu28695Ter
XM_017004823.1:c.67700T>A (TTN)	XP_016860312.1:p.Leu22567Ter
XM_024453094.1:c.89195T>A (TTN)	XP_024308862.1:p.Leu29732Ter
XM_024453095.1:c.89192T>A (TTN)	XP_024308863.1:p.Leu29731Ter
XM_024453096.1:c.88625T>A (TTN)	XP_024308864.1:p.Leu29542Ter
XM_024453097.1:c.85967T>A (TTN)	XP_024308865.1:p.Leu28656Ter
XM_024453098.1:c.85886T>A (TTN)	XP_024308866.1:p.Leu28629Ter
XM_024453099.1:c.67649T>A (TTN)	XP_024308867.1:p.Leu22550Ter
XM_024453100.1:c.57503T>A (TTN)	XP_024308868.1:p.Leu19168Ter