Canonical Allele Identifier: CA349594328

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179431168C>A (hg19) ; chr2:g.178566441C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178566441C>A , CM000664.2:g.178566441C>A	GRCh38
NC_000002.11:g.179431168C>A , CM000664.1:g.179431168C>A	GRCh37
NC_000002.10:g.179139414C>A	NCBI36
NG_011618.3:g.269362G>T , LRG_391:g.269362G>T
NG_051363.1:g.48615C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.71987G>T (TTN)	ENSP00000343764.6:p.Cys23996Phe
ENST00000342175.11:c.53072G>T (TTN)	ENSP00000340554.6:p.Cys17691Phe
ENST00000359218.10:c.52871G>T (TTN)	ENSP00000352154.5:p.Cys17624Phe
ENST00000342175.10:c.53072G>T (TTN)	ENSP00000340554.6:p.Cys17691Phe
ENST00000342992.10:c.71987G>T (TTN)	ENSP00000343764.6:p.Cys23996Phe
ENST00000359218.9:c.52871G>T (TTN)	ENSP00000352154.5:p.Cys17624Phe
ENST00000460472.6:c.52496G>T (TTN)	ENSP00000434586.1:p.Cys17499Phe
ENST00000589042.5:c.79691G>T (TTN) MANE Select	ENSP00000467141.1:p.Cys26564Phe
ENST00000591111.5:c.74768G>T (TTN)	ENSP00000465570.1:p.Cys24923Phe
ENST00000615779.4:c.74768G>T (TTN)	ENSP00000483597.1:p.Cys24923Phe
NM_001256850.1:c.74768G>T (TTN)	NP_001243779.1:p.Cys24923Phe
NM_001267550.2:c.79691G>T (TTN) MANE Select	NP_001254479.2:p.Cys26564Phe
NM_003319.4:c.52496G>T (TTN)	NP_003310.4:p.Cys17499Phe
NM_133378.4:c.71987G>T (TTN)	NP_596869.4:p.Cys23996Phe
NM_133432.3:c.52871G>T (TTN)	NP_597676.3:p.Cys17624Phe
NM_133437.4:c.53072G>T (TTN)	NP_597681.4:p.Cys17691Phe
NR_038271.1:n.447-4859C>A (TTN-AS1)
NR_038272.1:n.2044-16131C>A (TTN-AS1)
XM_011511729.1:c.78788G>T (TTN)	XP_011510031.1:p.Cys26263Phe
XM_011511730.1:c.52682G>T (TTN)	XP_011510032.1:p.Cys17561Phe
XM_011511731.1:c.52541G>T (TTN)	XP_011510033.1:p.Cys17514Phe
XM_017004819.1:c.78584G>T (TTN)	XP_016860308.1:p.Cys26195Phe
XM_017004820.1:c.73982G>T (TTN)	XP_016860309.1:p.Cys24661Phe
XM_017004821.1:c.73979G>T (TTN)	XP_016860310.1:p.Cys24660Phe
XM_017004822.1:c.71021G>T (TTN)	XP_016860311.1:p.Cys23674Phe
XM_017004823.1:c.52637G>T (TTN)	XP_016860312.1:p.Cys17546Phe
XM_024453094.1:c.74132G>T (TTN)	XP_024308862.1:p.Cys24711Phe
XM_024453095.1:c.74129G>T (TTN)	XP_024308863.1:p.Cys24710Phe
XM_024453096.1:c.73562G>T (TTN)	XP_024308864.1:p.Cys24521Phe
XM_024453097.1:c.70904G>T (TTN)	XP_024308865.1:p.Cys23635Phe
XM_024453098.1:c.70823G>T (TTN)	XP_024308866.1:p.Cys23608Phe
XM_024453099.1:c.52586G>T (TTN)	XP_024308867.1:p.Cys17529Phe
XM_024453100.1:c.42440G>T (TTN)	XP_024308868.1:p.Cys14147Phe