Canonical Allele Identifier: CA1988285

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 467593
• ClinVar RCV Id: RCV000555058 ; RCV001132854 ; RCV001136267 ; RCV001136268 ; RCV001136269 ; RCV001136270 ; RCV003139832
• dbSNP Id: rs749606240
• ExAC: 2:179422431 C / T
• gnomAD v2: 2-179422431-C-T
• gnomAD v3: 2-178557704-C-T
• gnomAD v4: 2-178557704-C-T
• MyVariant Identifiers: chr2:g.179422431C>T (hg19) ; chr2:g.178557704C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178557704C>T , CM000664.2:g.178557704C>T	GRCh38
NC_000002.11:g.179422431C>T , CM000664.1:g.179422431C>T	GRCh37
NC_000002.10:g.179130677C>T	NCBI36
NG_011618.3:g.278099G>A , LRG_391:g.278099G>A
NG_051363.1:g.39878C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.79946G>A (TTN)	ENSP00000343764.6:p.Arg26649His
ENST00000342175.11:c.61031G>A (TTN)	ENSP00000340554.6:p.Arg20344His
ENST00000359218.10:c.60830G>A (TTN)	ENSP00000352154.5:p.Arg20277His
ENST00000342175.10:c.61031G>A (TTN)	ENSP00000340554.6:p.Arg20344His
ENST00000342992.10:c.79946G>A (TTN)	ENSP00000343764.6:p.Arg26649His
ENST00000359218.9:c.60830G>A (TTN)	ENSP00000352154.5:p.Arg20277His
ENST00000460472.6:c.60455G>A (TTN)	ENSP00000434586.1:p.Arg20152His
ENST00000589042.5:c.87650G>A (TTN) MANE Select	ENSP00000467141.1:p.Arg29217His
ENST00000591111.5:c.82727G>A (TTN)	ENSP00000465570.1:p.Arg27576His
ENST00000615779.4:c.82727G>A (TTN)	ENSP00000483597.1:p.Arg27576His
NM_001256850.1:c.82727G>A (TTN)	NP_001243779.1:p.Arg27576His
NM_001267550.2:c.87650G>A (TTN) MANE Select	NP_001254479.2:p.Arg29217His
NM_003319.4:c.60455G>A (TTN)	NP_003310.4:p.Arg20152His
NM_133378.4:c.79946G>A (TTN)	NP_596869.4:p.Arg26649His
NM_133432.3:c.60830G>A (TTN)	NP_597676.3:p.Arg20277His
NM_133437.4:c.61031G>A (TTN)	NP_597681.4:p.Arg20344His
NR_038271.1:n.447-13596C>T (TTN-AS1)
NR_038272.1:n.2043+15343C>T (TTN-AS1)
XM_011511729.1:c.86747G>A (TTN)	XP_011510031.1:p.Arg28916His
XM_011511730.1:c.60641G>A (TTN)	XP_011510032.1:p.Arg20214His
XM_011511731.1:c.60500G>A (TTN)	XP_011510033.1:p.Arg20167His
XM_017004819.1:c.86543G>A (TTN)	XP_016860308.1:p.Arg28848His
XM_017004820.1:c.81941G>A (TTN)	XP_016860309.1:p.Arg27314His
XM_017004821.1:c.81938G>A (TTN)	XP_016860310.1:p.Arg27313His
XM_017004822.1:c.78980G>A (TTN)	XP_016860311.1:p.Arg26327His
XM_017004823.1:c.60596G>A (TTN)	XP_016860312.1:p.Arg20199His
XM_024453094.1:c.82091G>A (TTN)	XP_024308862.1:p.Arg27364His
XM_024453095.1:c.82088G>A (TTN)	XP_024308863.1:p.Arg27363His
XM_024453096.1:c.81521G>A (TTN)	XP_024308864.1:p.Arg27174His
XM_024453097.1:c.78863G>A (TTN)	XP_024308865.1:p.Arg26288His
XM_024453098.1:c.78782G>A (TTN)	XP_024308866.1:p.Arg26261His
XM_024453099.1:c.60545G>A (TTN)	XP_024308867.1:p.Arg20182His
XM_024453100.1:c.50399G>A (TTN)	XP_024308868.1:p.Arg16800His