Canonical Allele Identifier: CA349445849

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179407997T>G (hg19) ; chr2:g.178543270T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543270T>G , CM000664.2:g.178543270T>G	GRCh38
NC_000002.11:g.179407997T>G , CM000664.1:g.179407997T>G	GRCh37
NC_000002.10:g.179116243T>G	NCBI36
NG_011618.3:g.292533A>C , LRG_391:g.292533A>C
NG_051363.1:g.25444T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88999A>C (TTN)	ENSP00000343764.6:p.Thr29667Pro
ENST00000342175.11:c.70084A>C (TTN)	ENSP00000340554.6:p.Thr23362Pro
ENST00000359218.10:c.69883A>C (TTN)	ENSP00000352154.5:p.Thr23295Pro
ENST00000342175.10:c.70084A>C (TTN)	ENSP00000340554.6:p.Thr23362Pro
ENST00000342992.10:c.88999A>C (TTN)	ENSP00000343764.6:p.Thr29667Pro
ENST00000359218.9:c.69883A>C (TTN)	ENSP00000352154.5:p.Thr23295Pro
ENST00000460472.6:c.69508A>C (TTN)	ENSP00000434586.1:p.Thr23170Pro
ENST00000589042.5:c.96703A>C (TTN) MANE Select	ENSP00000467141.1:p.Thr32235Pro
ENST00000591111.5:c.91780A>C (TTN)	ENSP00000465570.1:p.Thr30594Pro
ENST00000615779.4:c.91780A>C (TTN)	ENSP00000483597.1:p.Thr30594Pro
NM_001256850.1:c.91780A>C (TTN)	NP_001243779.1:p.Thr30594Pro
NM_001267550.2:c.96703A>C (TTN) MANE Select	NP_001254479.2:p.Thr32235Pro
NM_003319.4:c.69508A>C (TTN)	NP_003310.4:p.Thr23170Pro
NM_133378.4:c.88999A>C (TTN)	NP_596869.4:p.Thr29667Pro
NM_133432.3:c.69883A>C (TTN)	NP_597676.3:p.Thr23295Pro
NM_133437.4:c.70084A>C (TTN)	NP_597681.4:p.Thr23362Pro
NR_038271.1:n.446+19634T>G (TTN-AS1)
NR_038272.1:n.2043+909T>G (TTN-AS1)
XM_011511729.1:c.95800A>C (TTN)	XP_011510031.1:p.Thr31934Pro
XM_011511730.1:c.69694A>C (TTN)	XP_011510032.1:p.Thr23232Pro
XM_011511731.1:c.69553A>C (TTN)	XP_011510033.1:p.Thr23185Pro
XM_017004819.1:c.95596A>C (TTN)	XP_016860308.1:p.Thr31866Pro
XM_017004820.1:c.90994A>C (TTN)	XP_016860309.1:p.Thr30332Pro
XM_017004821.1:c.90991A>C (TTN)	XP_016860310.1:p.Thr30331Pro
XM_017004822.1:c.88033A>C (TTN)	XP_016860311.1:p.Thr29345Pro
XM_017004823.1:c.69649A>C (TTN)	XP_016860312.1:p.Thr23217Pro
XM_024453094.1:c.91144A>C (TTN)	XP_024308862.1:p.Thr30382Pro
XM_024453095.1:c.91141A>C (TTN)	XP_024308863.1:p.Thr30381Pro
XM_024453096.1:c.90574A>C (TTN)	XP_024308864.1:p.Thr30192Pro
XM_024453097.1:c.87916A>C (TTN)	XP_024308865.1:p.Thr29306Pro
XM_024453098.1:c.87835A>C (TTN)	XP_024308866.1:p.Thr29279Pro
XM_024453099.1:c.69598A>C (TTN)	XP_024308867.1:p.Thr23200Pro
XM_024453100.1:c.59452A>C (TTN)	XP_024308868.1:p.Thr19818Pro