Canonical Allele Identifier: CA349456828

Gene: TTN TTN-AS1

Linked Data

• COSMIC: COSM5755871 ; COSM5755872 ; COSM5755873 ; COSM5755874
• MyVariant Identifiers: chr2:g.179409107T>A (hg19) ; chr2:g.178544380T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544380T>A , CM000664.2:g.178544380T>A	GRCh38
NC_000002.11:g.179409107T>A , CM000664.1:g.179409107T>A	GRCh37
NC_000002.10:g.179117353T>A	NCBI36
NG_011618.3:g.291423A>T , LRG_391:g.291423A>T
NG_051363.1:g.26554T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88145A>T (TTN)	ENSP00000343764.6:p.Glu29382Val
ENST00000342175.11:c.69230A>T (TTN)	ENSP00000340554.6:p.Glu23077Val
ENST00000359218.10:c.69029A>T (TTN)	ENSP00000352154.5:p.Glu23010Val
ENST00000342175.10:c.69230A>T (TTN)	ENSP00000340554.6:p.Glu23077Val
ENST00000342992.10:c.88145A>T (TTN)	ENSP00000343764.6:p.Glu29382Val
ENST00000359218.9:c.69029A>T (TTN)	ENSP00000352154.5:p.Glu23010Val
ENST00000460472.6:c.68654A>T (TTN)	ENSP00000434586.1:p.Glu22885Val
ENST00000589042.5:c.95849A>T (TTN) MANE Select	ENSP00000467141.1:p.Glu31950Val
ENST00000591111.5:c.90926A>T (TTN)	ENSP00000465570.1:p.Glu30309Val
ENST00000615779.4:c.90926A>T (TTN)	ENSP00000483597.1:p.Glu30309Val
NM_001256850.1:c.90926A>T (TTN)	NP_001243779.1:p.Glu30309Val
NM_001267550.2:c.95849A>T (TTN) MANE Select	NP_001254479.2:p.Glu31950Val
NM_003319.4:c.68654A>T (TTN)	NP_003310.4:p.Glu22885Val
NM_133378.4:c.88145A>T (TTN)	NP_596869.4:p.Glu29382Val
NM_133432.3:c.69029A>T (TTN)	NP_597676.3:p.Glu23010Val
NM_133437.4:c.69230A>T (TTN)	NP_597681.4:p.Glu23077Val
NR_038271.1:n.446+20744T>A (TTN-AS1)
NR_038272.1:n.2043+2019T>A (TTN-AS1)
XM_011511729.1:c.94946A>T (TTN)	XP_011510031.1:p.Glu31649Val
XM_011511730.1:c.68840A>T (TTN)	XP_011510032.1:p.Glu22947Val
XM_011511731.1:c.68699A>T (TTN)	XP_011510033.1:p.Glu22900Val
XM_017004819.1:c.94742A>T (TTN)	XP_016860308.1:p.Glu31581Val
XM_017004820.1:c.90140A>T (TTN)	XP_016860309.1:p.Glu30047Val
XM_017004821.1:c.90137A>T (TTN)	XP_016860310.1:p.Glu30046Val
XM_017004822.1:c.87179A>T (TTN)	XP_016860311.1:p.Glu29060Val
XM_017004823.1:c.68795A>T (TTN)	XP_016860312.1:p.Glu22932Val
XM_024453094.1:c.90290A>T (TTN)	XP_024308862.1:p.Glu30097Val
XM_024453095.1:c.90287A>T (TTN)	XP_024308863.1:p.Glu30096Val
XM_024453096.1:c.89720A>T (TTN)	XP_024308864.1:p.Glu29907Val
XM_024453097.1:c.87062A>T (TTN)	XP_024308865.1:p.Glu29021Val
XM_024453098.1:c.86981A>T (TTN)	XP_024308866.1:p.Glu28994Val
XM_024453099.1:c.68744A>T (TTN)	XP_024308867.1:p.Glu22915Val
XM_024453100.1:c.58598A>T (TTN)	XP_024308868.1:p.Glu19533Val