Canonical Allele Identifier: CA349411892

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179396974G>T (hg19) ; chr2:g.178532247G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532247G>T , CM000664.2:g.178532247G>T	GRCh38
NC_000002.11:g.179396974G>T , CM000664.1:g.179396974G>T	GRCh37
NC_000002.10:g.179105220G>T	NCBI36
NG_011618.3:g.303556C>A , LRG_391:g.303556C>A
NG_051363.1:g.14421G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96664C>A (TTN)	ENSP00000343764.6:p.Leu32222Ile
ENST00000342175.11:c.77749C>A (TTN)	ENSP00000340554.6:p.Leu25917Ile
ENST00000359218.10:c.77548C>A (TTN)	ENSP00000352154.5:p.Leu25850Ile
ENST00000342175.10:c.77749C>A (TTN)	ENSP00000340554.6:p.Leu25917Ile
ENST00000342992.10:c.96664C>A (TTN)	ENSP00000343764.6:p.Leu32222Ile
ENST00000359218.9:c.77548C>A (TTN)	ENSP00000352154.5:p.Leu25850Ile
ENST00000460472.6:c.77173C>A (TTN)	ENSP00000434586.1:p.Leu25725Ile
ENST00000589042.5:c.104368C>A (TTN) MANE Select	ENSP00000467141.1:p.Leu34790Ile
ENST00000591111.5:c.99445C>A (TTN)	ENSP00000465570.1:p.Leu33149Ile
ENST00000615779.4:c.99445C>A (TTN)	ENSP00000483597.1:p.Leu33149Ile
NM_001256850.1:c.99445C>A (TTN)	NP_001243779.1:p.Leu33149Ile
NM_001267550.2:c.104368C>A (TTN) MANE Select	NP_001254479.2:p.Leu34790Ile
NM_003319.4:c.77173C>A (TTN)	NP_003310.4:p.Leu25725Ile
NM_133378.4:c.96664C>A (TTN)	NP_596869.4:p.Leu32222Ile
NM_133432.3:c.77548C>A (TTN)	NP_597676.3:p.Leu25850Ile
NM_133437.4:c.77749C>A (TTN)	NP_597681.4:p.Leu25917Ile
NR_038271.1:n.446+8611G>T (TTN-AS1)
NR_038272.1:n.220-3485G>T (TTN-AS1)
XM_011511729.1:c.103465C>A (TTN)	XP_011510031.1:p.Leu34489Ile
XM_011511730.1:c.77359C>A (TTN)	XP_011510032.1:p.Leu25787Ile
XM_011511731.1:c.77218C>A (TTN)	XP_011510033.1:p.Leu25740Ile
XM_017004819.1:c.103261C>A (TTN)	XP_016860308.1:p.Leu34421Ile
XM_017004820.1:c.98659C>A (TTN)	XP_016860309.1:p.Leu32887Ile
XM_017004821.1:c.98656C>A (TTN)	XP_016860310.1:p.Leu32886Ile
XM_017004822.1:c.95698C>A (TTN)	XP_016860311.1:p.Leu31900Ile
XM_017004823.1:c.77314C>A (TTN)	XP_016860312.1:p.Leu25772Ile
XM_024453094.1:c.98809C>A (TTN)	XP_024308862.1:p.Leu32937Ile
XM_024453095.1:c.98806C>A (TTN)	XP_024308863.1:p.Leu32936Ile
XM_024453096.1:c.98239C>A (TTN)	XP_024308864.1:p.Leu32747Ile
XM_024453097.1:c.95581C>A (TTN)	XP_024308865.1:p.Leu31861Ile
XM_024453098.1:c.95500C>A (TTN)	XP_024308866.1:p.Leu31834Ile
XM_024453099.1:c.77263C>A (TTN)	XP_024308867.1:p.Leu25755Ile
XM_024453100.1:c.67117C>A (TTN)	XP_024308868.1:p.Leu22373Ile