Canonical Allele Identifier: CA349456797

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179409104T>A (hg19) ; chr2:g.178544377T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544377T>A , CM000664.2:g.178544377T>A	GRCh38
NC_000002.11:g.179409104T>A , CM000664.1:g.179409104T>A	GRCh37
NC_000002.10:g.179117350T>A	NCBI36
NG_011618.3:g.291426A>T , LRG_391:g.291426A>T
NG_051363.1:g.26551T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.88148A>T (TTN)	ENSP00000343764.6:p.Lys29383Met
ENST00000342175.11:c.69233A>T (TTN)	ENSP00000340554.6:p.Lys23078Met
ENST00000359218.10:c.69032A>T (TTN)	ENSP00000352154.5:p.Lys23011Met
ENST00000342175.10:c.69233A>T (TTN)	ENSP00000340554.6:p.Lys23078Met
ENST00000342992.10:c.88148A>T (TTN)	ENSP00000343764.6:p.Lys29383Met
ENST00000359218.9:c.69032A>T (TTN)	ENSP00000352154.5:p.Lys23011Met
ENST00000460472.6:c.68657A>T (TTN)	ENSP00000434586.1:p.Lys22886Met
ENST00000589042.5:c.95852A>T (TTN) MANE Select	ENSP00000467141.1:p.Lys31951Met
ENST00000591111.5:c.90929A>T (TTN)	ENSP00000465570.1:p.Lys30310Met
ENST00000615779.4:c.90929A>T (TTN)	ENSP00000483597.1:p.Lys30310Met
NM_001256850.1:c.90929A>T (TTN)	NP_001243779.1:p.Lys30310Met
NM_001267550.2:c.95852A>T (TTN) MANE Select	NP_001254479.2:p.Lys31951Met
NM_003319.4:c.68657A>T (TTN)	NP_003310.4:p.Lys22886Met
NM_133378.4:c.88148A>T (TTN)	NP_596869.4:p.Lys29383Met
NM_133432.3:c.69032A>T (TTN)	NP_597676.3:p.Lys23011Met
NM_133437.4:c.69233A>T (TTN)	NP_597681.4:p.Lys23078Met
NR_038271.1:n.446+20741T>A (TTN-AS1)
NR_038272.1:n.2043+2016T>A (TTN-AS1)
XM_011511729.1:c.94949A>T (TTN)	XP_011510031.1:p.Lys31650Met
XM_011511730.1:c.68843A>T (TTN)	XP_011510032.1:p.Lys22948Met
XM_011511731.1:c.68702A>T (TTN)	XP_011510033.1:p.Lys22901Met
XM_017004819.1:c.94745A>T (TTN)	XP_016860308.1:p.Lys31582Met
XM_017004820.1:c.90143A>T (TTN)	XP_016860309.1:p.Lys30048Met
XM_017004821.1:c.90140A>T (TTN)	XP_016860310.1:p.Lys30047Met
XM_017004822.1:c.87182A>T (TTN)	XP_016860311.1:p.Lys29061Met
XM_017004823.1:c.68798A>T (TTN)	XP_016860312.1:p.Lys22933Met
XM_024453094.1:c.90293A>T (TTN)	XP_024308862.1:p.Lys30098Met
XM_024453095.1:c.90290A>T (TTN)	XP_024308863.1:p.Lys30097Met
XM_024453096.1:c.89723A>T (TTN)	XP_024308864.1:p.Lys29908Met
XM_024453097.1:c.87065A>T (TTN)	XP_024308865.1:p.Lys29022Met
XM_024453098.1:c.86984A>T (TTN)	XP_024308866.1:p.Lys28995Met
XM_024453099.1:c.68747A>T (TTN)	XP_024308867.1:p.Lys22916Met
XM_024453100.1:c.58601A>T (TTN)	XP_024308868.1:p.Lys19534Met