Canonical Allele Identifier: CA349647813

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179438603T>A (hg19) ; chr2:g.178573876T>A (hg38)
• PubMed: PMID:27479843

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178573876T>A , CM000664.2:g.178573876T>A	GRCh38
NC_000002.11:g.179438603T>A , CM000664.1:g.179438603T>A	GRCh37
NC_000002.10:g.179146849T>A	NCBI36
NG_011618.3:g.261927A>T , LRG_391:g.261927A>T
NG_051363.1:g.56050T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.64552A>T (TTN)	ENSP00000343764.6:p.Asn21518Tyr
ENST00000342175.11:c.45637A>T (TTN)	ENSP00000340554.6:p.Asn15213Tyr
ENST00000359218.10:c.45436A>T (TTN)	ENSP00000352154.5:p.Asn15146Tyr
ENST00000342175.10:c.45637A>T (TTN)	ENSP00000340554.6:p.Asn15213Tyr
ENST00000342992.10:c.64552A>T (TTN)	ENSP00000343764.6:p.Asn21518Tyr
ENST00000359218.9:c.45436A>T (TTN)	ENSP00000352154.5:p.Asn15146Tyr
ENST00000460472.6:c.45061A>T (TTN)	ENSP00000434586.1:p.Asn15021Tyr
ENST00000589042.5:c.72256A>T (TTN) MANE Select	ENSP00000467141.1:p.Asn24086Tyr
ENST00000591111.5:c.67333A>T (TTN)	ENSP00000465570.1:p.Asn22445Tyr
ENST00000615779.4:c.67333A>T (TTN)	ENSP00000483597.1:p.Asn22445Tyr
NM_001256850.1:c.67333A>T (TTN)	NP_001243779.1:p.Asn22445Tyr
NM_001267550.2:c.72256A>T (TTN) MANE Select	NP_001254479.2:p.Asn24086Tyr
NM_003319.4:c.45061A>T (TTN)	NP_003310.4:p.Asn15021Tyr
NM_133378.4:c.64552A>T (TTN)	NP_596869.4:p.Asn21518Tyr
NM_133432.3:c.45436A>T (TTN)	NP_597676.3:p.Asn15146Tyr
NM_133437.4:c.45637A>T (TTN)	NP_597681.4:p.Asn15213Tyr
NR_038271.1:n.596+2427T>A (TTN-AS1)
NR_038272.1:n.2044-8696T>A (TTN-AS1)
XM_011511729.1:c.71353A>T (TTN)	XP_011510031.1:p.Asn23785Tyr
XM_011511730.1:c.45247A>T (TTN)	XP_011510032.1:p.Asn15083Tyr
XM_011511731.1:c.45106A>T (TTN)	XP_011510033.1:p.Asn15036Tyr
XM_017004819.1:c.71149A>T (TTN)	XP_016860308.1:p.Asn23717Tyr
XM_017004820.1:c.66547A>T (TTN)	XP_016860309.1:p.Asn22183Tyr
XM_017004821.1:c.66544A>T (TTN)	XP_016860310.1:p.Asn22182Tyr
XM_017004822.1:c.63586A>T (TTN)	XP_016860311.1:p.Asn21196Tyr
XM_017004823.1:c.45202A>T (TTN)	XP_016860312.1:p.Asn15068Tyr
XM_024453094.1:c.66697A>T (TTN)	XP_024308862.1:p.Asn22233Tyr
XM_024453095.1:c.66694A>T (TTN)	XP_024308863.1:p.Asn22232Tyr
XM_024453096.1:c.66127A>T (TTN)	XP_024308864.1:p.Asn22043Tyr
XM_024453097.1:c.63469A>T (TTN)	XP_024308865.1:p.Asn21157Tyr
XM_024453098.1:c.63388A>T (TTN)	XP_024308866.1:p.Asn21130Tyr
XM_024453099.1:c.45151A>T (TTN)	XP_024308867.1:p.Asn15051Tyr
XM_024453100.1:c.35005A>T (TTN)	XP_024308868.1:p.Asn11669Tyr