Canonical Allele Identifier: CA349451008

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179408629C>A (hg19) ; chr2:g.178543902C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543902C>A , CM000664.2:g.178543902C>A	GRCh38
NC_000002.11:g.179408629C>A , CM000664.1:g.179408629C>A	GRCh37
NC_000002.10:g.179116875C>A	NCBI36
NG_011618.3:g.291901G>T , LRG_391:g.291901G>T
NG_051363.1:g.26076C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88538G>T (TTN)	ENSP00000343764.6:p.Gly29513Val
ENST00000342175.11:c.69623G>T (TTN)	ENSP00000340554.6:p.Gly23208Val
ENST00000359218.10:c.69422G>T (TTN)	ENSP00000352154.5:p.Gly23141Val
ENST00000342175.10:c.69623G>T (TTN)	ENSP00000340554.6:p.Gly23208Val
ENST00000342992.10:c.88538G>T (TTN)	ENSP00000343764.6:p.Gly29513Val
ENST00000359218.9:c.69422G>T (TTN)	ENSP00000352154.5:p.Gly23141Val
ENST00000460472.6:c.69047G>T (TTN)	ENSP00000434586.1:p.Gly23016Val
ENST00000589042.5:c.96242G>T (TTN) MANE Select	ENSP00000467141.1:p.Gly32081Val
ENST00000591111.5:c.91319G>T (TTN)	ENSP00000465570.1:p.Gly30440Val
ENST00000615779.4:c.91319G>T (TTN)	ENSP00000483597.1:p.Gly30440Val
NM_001256850.1:c.91319G>T (TTN)	NP_001243779.1:p.Gly30440Val
NM_001267550.2:c.96242G>T (TTN) MANE Select	NP_001254479.2:p.Gly32081Val
NM_003319.4:c.69047G>T (TTN)	NP_003310.4:p.Gly23016Val
NM_133378.4:c.88538G>T (TTN)	NP_596869.4:p.Gly29513Val
NM_133432.3:c.69422G>T (TTN)	NP_597676.3:p.Gly23141Val
NM_133437.4:c.69623G>T (TTN)	NP_597681.4:p.Gly23208Val
NR_038271.1:n.446+20266C>A (TTN-AS1)
NR_038272.1:n.2043+1541C>A (TTN-AS1)
XM_011511729.1:c.95339G>T (TTN)	XP_011510031.1:p.Gly31780Val
XM_011511730.1:c.69233G>T (TTN)	XP_011510032.1:p.Gly23078Val
XM_011511731.1:c.69092G>T (TTN)	XP_011510033.1:p.Gly23031Val
XM_017004819.1:c.95135G>T (TTN)	XP_016860308.1:p.Gly31712Val
XM_017004820.1:c.90533G>T (TTN)	XP_016860309.1:p.Gly30178Val
XM_017004821.1:c.90530G>T (TTN)	XP_016860310.1:p.Gly30177Val
XM_017004822.1:c.87572G>T (TTN)	XP_016860311.1:p.Gly29191Val
XM_017004823.1:c.69188G>T (TTN)	XP_016860312.1:p.Gly23063Val
XM_024453094.1:c.90683G>T (TTN)	XP_024308862.1:p.Gly30228Val
XM_024453095.1:c.90680G>T (TTN)	XP_024308863.1:p.Gly30227Val
XM_024453096.1:c.90113G>T (TTN)	XP_024308864.1:p.Gly30038Val
XM_024453097.1:c.87455G>T (TTN)	XP_024308865.1:p.Gly29152Val
XM_024453098.1:c.87374G>T (TTN)	XP_024308866.1:p.Gly29125Val
XM_024453099.1:c.69137G>T (TTN)	XP_024308867.1:p.Gly23046Val
XM_024453100.1:c.58991G>T (TTN)	XP_024308868.1:p.Gly19664Val