Canonical Allele Identifier: CA349546225

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179467162T>A (hg19) ; chr2:g.178602435T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178602435T>A , CM000664.2:g.178602435T>A	GRCh38
NC_000002.11:g.179467162T>A , CM000664.1:g.179467162T>A	GRCh37
NC_000002.10:g.179175407T>A	NCBI36
NG_011618.3:g.233368A>T , LRG_391:g.233368A>T
NG_051363.1:g.84609T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.47263A>T (TTN)	ENSP00000343764.6:p.Asn15755Tyr
ENST00000342175.11:c.28348A>T (TTN)	ENSP00000340554.6:p.Asn9450Tyr
ENST00000359218.10:c.28147A>T (TTN)	ENSP00000352154.5:p.Asn9383Tyr
ENST00000342175.10:c.28348A>T (TTN)	ENSP00000340554.6:p.Asn9450Tyr
ENST00000342992.10:c.47263A>T (TTN)	ENSP00000343764.6:p.Asn15755Tyr
ENST00000359218.9:c.28147A>T (TTN)	ENSP00000352154.5:p.Asn9383Tyr
ENST00000460472.6:c.27772A>T (TTN)	ENSP00000434586.1:p.Asn9258Tyr
ENST00000589042.5:c.54967A>T (TTN) MANE Select	ENSP00000467141.1:p.Asn18323Tyr
ENST00000591111.5:c.50044A>T (TTN)	ENSP00000465570.1:p.Asn16682Tyr
ENST00000615779.4:c.50044A>T (TTN)	ENSP00000483597.1:p.Asn16682Tyr
NM_001256850.1:c.50044A>T (TTN)	NP_001243779.1:p.Asn16682Tyr
NM_001267550.2:c.54967A>T (TTN) MANE Select	NP_001254479.2:p.Asn18323Tyr
NM_003319.4:c.27772A>T (TTN)	NP_003310.4:p.Asn9258Tyr
NM_133378.4:c.47263A>T (TTN)	NP_596869.4:p.Asn15755Tyr
NM_133432.3:c.28147A>T (TTN)	NP_597676.3:p.Asn9383Tyr
NM_133437.4:c.28348A>T (TTN)	NP_597681.4:p.Asn9450Tyr
NR_038271.1:n.682+4754T>A (TTN-AS1)
NR_038272.1:n.3917+1768T>A (TTN-AS1)
XM_011511729.1:c.54064A>T (TTN)	XP_011510031.1:p.Asn18022Tyr
XM_011511730.1:c.27958A>T (TTN)	XP_011510032.1:p.Asn9320Tyr
XM_011511731.1:c.27817A>T (TTN)	XP_011510033.1:p.Asn9273Tyr
XM_017004819.1:c.53860A>T (TTN)	XP_016860308.1:p.Asn17954Tyr
XM_017004820.1:c.49258A>T (TTN)	XP_016860309.1:p.Asn16420Tyr
XM_017004821.1:c.49255A>T (TTN)	XP_016860310.1:p.Asn16419Tyr
XM_017004822.1:c.46297A>T (TTN)	XP_016860311.1:p.Asn15433Tyr
XM_017004823.1:c.27913A>T (TTN)	XP_016860312.1:p.Asn9305Tyr
XM_024453094.1:c.49408A>T (TTN)	XP_024308862.1:p.Asn16470Tyr
XM_024453095.1:c.49405A>T (TTN)	XP_024308863.1:p.Asn16469Tyr
XM_024453096.1:c.48838A>T (TTN)	XP_024308864.1:p.Asn16280Tyr
XM_024453097.1:c.46180A>T (TTN)	XP_024308865.1:p.Asn15394Tyr
XM_024453098.1:c.46099A>T (TTN)	XP_024308866.1:p.Asn15367Tyr
XM_024453099.1:c.27862A>T (TTN)	XP_024308867.1:p.Asn9288Tyr
XM_024453100.1:c.17716A>T (TTN)	XP_024308868.1:p.Asn5906Tyr