Canonical Allele Identifier: CA349411925

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1689458268
• MyVariant Identifiers: chr2:g.179396988T>A (hg19) ; chr2:g.178532261T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532261T>A , CM000664.2:g.178532261T>A	GRCh38
NC_000002.11:g.179396988T>A , CM000664.1:g.179396988T>A	GRCh37
NC_000002.10:g.179105234T>A	NCBI36
NG_011618.3:g.303542A>T , LRG_391:g.303542A>T
NG_051363.1:g.14435T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96650A>T (TTN)	ENSP00000343764.6:p.Glu32217Val
ENST00000342175.11:c.77735A>T (TTN)	ENSP00000340554.6:p.Glu25912Val
ENST00000359218.10:c.77534A>T (TTN)	ENSP00000352154.5:p.Glu25845Val
ENST00000342175.10:c.77735A>T (TTN)	ENSP00000340554.6:p.Glu25912Val
ENST00000342992.10:c.96650A>T (TTN)	ENSP00000343764.6:p.Glu32217Val
ENST00000359218.9:c.77534A>T (TTN)	ENSP00000352154.5:p.Glu25845Val
ENST00000460472.6:c.77159A>T (TTN)	ENSP00000434586.1:p.Glu25720Val
ENST00000589042.5:c.104354A>T (TTN) MANE Select	ENSP00000467141.1:p.Glu34785Val
ENST00000591111.5:c.99431A>T (TTN)	ENSP00000465570.1:p.Glu33144Val
ENST00000615779.4:c.99431A>T (TTN)	ENSP00000483597.1:p.Glu33144Val
NM_001256850.1:c.99431A>T (TTN)	NP_001243779.1:p.Glu33144Val
NM_001267550.2:c.104354A>T (TTN) MANE Select	NP_001254479.2:p.Glu34785Val
NM_003319.4:c.77159A>T (TTN)	NP_003310.4:p.Glu25720Val
NM_133378.4:c.96650A>T (TTN)	NP_596869.4:p.Glu32217Val
NM_133432.3:c.77534A>T (TTN)	NP_597676.3:p.Glu25845Val
NM_133437.4:c.77735A>T (TTN)	NP_597681.4:p.Glu25912Val
NR_038271.1:n.446+8625T>A (TTN-AS1)
NR_038272.1:n.220-3471T>A (TTN-AS1)
XM_011511729.1:c.103451A>T (TTN)	XP_011510031.1:p.Glu34484Val
XM_011511730.1:c.77345A>T (TTN)	XP_011510032.1:p.Glu25782Val
XM_011511731.1:c.77204A>T (TTN)	XP_011510033.1:p.Glu25735Val
XM_017004819.1:c.103247A>T (TTN)	XP_016860308.1:p.Glu34416Val
XM_017004820.1:c.98645A>T (TTN)	XP_016860309.1:p.Glu32882Val
XM_017004821.1:c.98642A>T (TTN)	XP_016860310.1:p.Glu32881Val
XM_017004822.1:c.95684A>T (TTN)	XP_016860311.1:p.Glu31895Val
XM_017004823.1:c.77300A>T (TTN)	XP_016860312.1:p.Glu25767Val
XM_024453094.1:c.98795A>T (TTN)	XP_024308862.1:p.Glu32932Val
XM_024453095.1:c.98792A>T (TTN)	XP_024308863.1:p.Glu32931Val
XM_024453096.1:c.98225A>T (TTN)	XP_024308864.1:p.Glu32742Val
XM_024453097.1:c.95567A>T (TTN)	XP_024308865.1:p.Glu31856Val
XM_024453098.1:c.95486A>T (TTN)	XP_024308866.1:p.Glu31829Val
XM_024453099.1:c.77249A>T (TTN)	XP_024308867.1:p.Glu25750Val
XM_024453100.1:c.67103A>T (TTN)	XP_024308868.1:p.Glu22368Val