Canonical Allele Identifier: CA349451205

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178543925-G-T
• MyVariant Identifiers: chr2:g.179408652G>T (hg19) ; chr2:g.178543925G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543925G>T , CM000664.2:g.178543925G>T	GRCh38
NC_000002.11:g.179408652G>T , CM000664.1:g.179408652G>T	GRCh37
NC_000002.10:g.179116898G>T	NCBI36
NG_011618.3:g.291878C>A , LRG_391:g.291878C>A
NG_051363.1:g.26099G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88515C>A (TTN)	ENSP00000343764.6:p.Asp29505Glu
ENST00000342175.11:c.69600C>A (TTN)	ENSP00000340554.6:p.Asp23200Glu
ENST00000359218.10:c.69399C>A (TTN)	ENSP00000352154.5:p.Asp23133Glu
ENST00000342175.10:c.69600C>A (TTN)	ENSP00000340554.6:p.Asp23200Glu
ENST00000342992.10:c.88515C>A (TTN)	ENSP00000343764.6:p.Asp29505Glu
ENST00000359218.9:c.69399C>A (TTN)	ENSP00000352154.5:p.Asp23133Glu
ENST00000460472.6:c.69024C>A (TTN)	ENSP00000434586.1:p.Asp23008Glu
ENST00000589042.5:c.96219C>A (TTN) MANE Select	ENSP00000467141.1:p.Asp32073Glu
ENST00000591111.5:c.91296C>A (TTN)	ENSP00000465570.1:p.Asp30432Glu
ENST00000615779.4:c.91296C>A (TTN)	ENSP00000483597.1:p.Asp30432Glu
NM_001256850.1:c.91296C>A (TTN)	NP_001243779.1:p.Asp30432Glu
NM_001267550.2:c.96219C>A (TTN) MANE Select	NP_001254479.2:p.Asp32073Glu
NM_003319.4:c.69024C>A (TTN)	NP_003310.4:p.Asp23008Glu
NM_133378.4:c.88515C>A (TTN)	NP_596869.4:p.Asp29505Glu
NM_133432.3:c.69399C>A (TTN)	NP_597676.3:p.Asp23133Glu
NM_133437.4:c.69600C>A (TTN)	NP_597681.4:p.Asp23200Glu
NR_038271.1:n.446+20289G>T (TTN-AS1)
NR_038272.1:n.2043+1564G>T (TTN-AS1)
XM_011511729.1:c.95316C>A (TTN)	XP_011510031.1:p.Asp31772Glu
XM_011511730.1:c.69210C>A (TTN)	XP_011510032.1:p.Asp23070Glu
XM_011511731.1:c.69069C>A (TTN)	XP_011510033.1:p.Asp23023Glu
XM_017004819.1:c.95112C>A (TTN)	XP_016860308.1:p.Asp31704Glu
XM_017004820.1:c.90510C>A (TTN)	XP_016860309.1:p.Asp30170Glu
XM_017004821.1:c.90507C>A (TTN)	XP_016860310.1:p.Asp30169Glu
XM_017004822.1:c.87549C>A (TTN)	XP_016860311.1:p.Asp29183Glu
XM_017004823.1:c.69165C>A (TTN)	XP_016860312.1:p.Asp23055Glu
XM_024453094.1:c.90660C>A (TTN)	XP_024308862.1:p.Asp30220Glu
XM_024453095.1:c.90657C>A (TTN)	XP_024308863.1:p.Asp30219Glu
XM_024453096.1:c.90090C>A (TTN)	XP_024308864.1:p.Asp30030Glu
XM_024453097.1:c.87432C>A (TTN)	XP_024308865.1:p.Asp29144Glu
XM_024453098.1:c.87351C>A (TTN)	XP_024308866.1:p.Asp29117Glu
XM_024453099.1:c.69114C>A (TTN)	XP_024308867.1:p.Asp23038Glu
XM_024453100.1:c.58968C>A (TTN)	XP_024308868.1:p.Asp19656Glu