Canonical Allele Identifier: CA349551945

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178560520-C-T
• MyVariant Identifiers: chr2:g.179425247C>T (hg19) ; chr2:g.178560520C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178560520C>T , CM000664.2:g.178560520C>T	GRCh38
NC_000002.11:g.179425247C>T , CM000664.1:g.179425247C>T	GRCh37
NC_000002.10:g.179133493C>T	NCBI36
NG_011618.3:g.275283G>A , LRG_391:g.275283G>A
NG_051363.1:g.42694C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.77908G>A (TTN)	ENSP00000343764.6:p.Glu25970Lys
ENST00000342175.11:c.58993G>A (TTN)	ENSP00000340554.6:p.Glu19665Lys
ENST00000359218.10:c.58792G>A (TTN)	ENSP00000352154.5:p.Glu19598Lys
ENST00000342175.10:c.58993G>A (TTN)	ENSP00000340554.6:p.Glu19665Lys
ENST00000342992.10:c.77908G>A (TTN)	ENSP00000343764.6:p.Glu25970Lys
ENST00000359218.9:c.58792G>A (TTN)	ENSP00000352154.5:p.Glu19598Lys
ENST00000460472.6:c.58417G>A (TTN)	ENSP00000434586.1:p.Glu19473Lys
ENST00000589042.5:c.85612G>A (TTN) MANE Select	ENSP00000467141.1:p.Glu28538Lys
ENST00000591111.5:c.80689G>A (TTN)	ENSP00000465570.1:p.Glu26897Lys
ENST00000615779.4:c.80689G>A (TTN)	ENSP00000483597.1:p.Glu26897Lys
NM_001256850.1:c.80689G>A (TTN)	NP_001243779.1:p.Glu26897Lys
NM_001267550.2:c.85612G>A (TTN) MANE Select	NP_001254479.2:p.Glu28538Lys
NM_003319.4:c.58417G>A (TTN)	NP_003310.4:p.Glu19473Lys
NM_133378.4:c.77908G>A (TTN)	NP_596869.4:p.Glu25970Lys
NM_133432.3:c.58792G>A (TTN)	NP_597676.3:p.Glu19598Lys
NM_133437.4:c.58993G>A (TTN)	NP_597681.4:p.Glu19665Lys
NR_038271.1:n.447-10780C>T (TTN-AS1)
NR_038272.1:n.2043+18159C>T (TTN-AS1)
XM_011511729.1:c.84709G>A (TTN)	XP_011510031.1:p.Glu28237Lys
XM_011511730.1:c.58603G>A (TTN)	XP_011510032.1:p.Glu19535Lys
XM_011511731.1:c.58462G>A (TTN)	XP_011510033.1:p.Glu19488Lys
XM_017004819.1:c.84505G>A (TTN)	XP_016860308.1:p.Glu28169Lys
XM_017004820.1:c.79903G>A (TTN)	XP_016860309.1:p.Glu26635Lys
XM_017004821.1:c.79900G>A (TTN)	XP_016860310.1:p.Glu26634Lys
XM_017004822.1:c.76942G>A (TTN)	XP_016860311.1:p.Glu25648Lys
XM_017004823.1:c.58558G>A (TTN)	XP_016860312.1:p.Glu19520Lys
XM_024453094.1:c.80053G>A (TTN)	XP_024308862.1:p.Glu26685Lys
XM_024453095.1:c.80050G>A (TTN)	XP_024308863.1:p.Glu26684Lys
XM_024453096.1:c.79483G>A (TTN)	XP_024308864.1:p.Glu26495Lys
XM_024453097.1:c.76825G>A (TTN)	XP_024308865.1:p.Glu25609Lys
XM_024453098.1:c.76744G>A (TTN)	XP_024308866.1:p.Glu25582Lys
XM_024453099.1:c.58507G>A (TTN)	XP_024308867.1:p.Glu19503Lys
XM_024453100.1:c.48361G>A (TTN)	XP_024308868.1:p.Glu16121Lys