Canonical Allele Identifier: CA349425407

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179400898T>A (hg19) ; chr2:g.178536171T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178536171T>A , CM000664.2:g.178536171T>A	GRCh38
NC_000002.11:g.179400898T>A , CM000664.1:g.179400898T>A	GRCh37
NC_000002.10:g.179109144T>A	NCBI36
NG_011618.3:g.299632A>T , LRG_391:g.299632A>T
NG_051363.1:g.18345T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.92872A>T (TTN)	ENSP00000343764.6:p.Ile30958Phe
ENST00000342175.11:c.73957A>T (TTN)	ENSP00000340554.6:p.Ile24653Phe
ENST00000359218.10:c.73756A>T (TTN)	ENSP00000352154.5:p.Ile24586Phe
ENST00000342175.10:c.73957A>T (TTN)	ENSP00000340554.6:p.Ile24653Phe
ENST00000342992.10:c.92872A>T (TTN)	ENSP00000343764.6:p.Ile30958Phe
ENST00000359218.9:c.73756A>T (TTN)	ENSP00000352154.5:p.Ile24586Phe
ENST00000460472.6:c.73381A>T (TTN)	ENSP00000434586.1:p.Ile24461Phe
ENST00000589042.5:c.100576A>T (TTN) MANE Select	ENSP00000467141.1:p.Ile33526Phe
ENST00000591111.5:c.95653A>T (TTN)	ENSP00000465570.1:p.Ile31885Phe
ENST00000615779.4:c.95653A>T (TTN)	ENSP00000483597.1:p.Ile31885Phe
NM_001256850.1:c.95653A>T (TTN)	NP_001243779.1:p.Ile31885Phe
NM_001267550.2:c.100576A>T (TTN) MANE Select	NP_001254479.2:p.Ile33526Phe
NM_003319.4:c.73381A>T (TTN)	NP_003310.4:p.Ile24461Phe
NM_133378.4:c.92872A>T (TTN)	NP_596869.4:p.Ile30958Phe
NM_133432.3:c.73756A>T (TTN)	NP_597676.3:p.Ile24586Phe
NM_133437.4:c.73957A>T (TTN)	NP_597681.4:p.Ile24653Phe
NR_038271.1:n.446+12535T>A (TTN-AS1)
NR_038272.1:n.316+343T>A (TTN-AS1)
XM_011511729.1:c.99673A>T (TTN)	XP_011510031.1:p.Ile33225Phe
XM_011511730.1:c.73567A>T (TTN)	XP_011510032.1:p.Ile24523Phe
XM_011511731.1:c.73426A>T (TTN)	XP_011510033.1:p.Ile24476Phe
XM_017004819.1:c.99469A>T (TTN)	XP_016860308.1:p.Ile33157Phe
XM_017004820.1:c.94867A>T (TTN)	XP_016860309.1:p.Ile31623Phe
XM_017004821.1:c.94864A>T (TTN)	XP_016860310.1:p.Ile31622Phe
XM_017004822.1:c.91906A>T (TTN)	XP_016860311.1:p.Ile30636Phe
XM_017004823.1:c.73522A>T (TTN)	XP_016860312.1:p.Ile24508Phe
XM_024453094.1:c.95017A>T (TTN)	XP_024308862.1:p.Ile31673Phe
XM_024453095.1:c.95014A>T (TTN)	XP_024308863.1:p.Ile31672Phe
XM_024453096.1:c.94447A>T (TTN)	XP_024308864.1:p.Ile31483Phe
XM_024453097.1:c.91789A>T (TTN)	XP_024308865.1:p.Ile30597Phe
XM_024453098.1:c.91708A>T (TTN)	XP_024308866.1:p.Ile30570Phe
XM_024453099.1:c.73471A>T (TTN)	XP_024308867.1:p.Ile24491Phe
XM_024453100.1:c.63325A>T (TTN)	XP_024308868.1:p.Ile21109Phe