Canonical Allele Identifier: CA349456853

Gene: TTN TTN-AS1

Linked Data

• COSMIC: COSM4833103 ; COSM4833104 ; COSM4833105 ; COSM4833106
• MyVariant Identifiers: chr2:g.179409108C>G (hg19) ; chr2:g.178544381C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544381C>G , CM000664.2:g.178544381C>G	GRCh38
NC_000002.11:g.179409108C>G , CM000664.1:g.179409108C>G	GRCh37
NC_000002.10:g.179117354C>G	NCBI36
NG_011618.3:g.291422G>C , LRG_391:g.291422G>C
NG_051363.1:g.26555C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.88144G>C (TTN)	ENSP00000343764.6:p.Glu29382Gln
ENST00000342175.11:c.69229G>C (TTN)	ENSP00000340554.6:p.Glu23077Gln
ENST00000359218.10:c.69028G>C (TTN)	ENSP00000352154.5:p.Glu23010Gln
ENST00000342175.10:c.69229G>C (TTN)	ENSP00000340554.6:p.Glu23077Gln
ENST00000342992.10:c.88144G>C (TTN)	ENSP00000343764.6:p.Glu29382Gln
ENST00000359218.9:c.69028G>C (TTN)	ENSP00000352154.5:p.Glu23010Gln
ENST00000460472.6:c.68653G>C (TTN)	ENSP00000434586.1:p.Glu22885Gln
ENST00000589042.5:c.95848G>C (TTN) MANE Select	ENSP00000467141.1:p.Glu31950Gln
ENST00000591111.5:c.90925G>C (TTN)	ENSP00000465570.1:p.Glu30309Gln
ENST00000615779.4:c.90925G>C (TTN)	ENSP00000483597.1:p.Glu30309Gln
NM_001256850.1:c.90925G>C (TTN)	NP_001243779.1:p.Glu30309Gln
NM_001267550.2:c.95848G>C (TTN) MANE Select	NP_001254479.2:p.Glu31950Gln
NM_003319.4:c.68653G>C (TTN)	NP_003310.4:p.Glu22885Gln
NM_133378.4:c.88144G>C (TTN)	NP_596869.4:p.Glu29382Gln
NM_133432.3:c.69028G>C (TTN)	NP_597676.3:p.Glu23010Gln
NM_133437.4:c.69229G>C (TTN)	NP_597681.4:p.Glu23077Gln
NR_038271.1:n.446+20745C>G (TTN-AS1)
NR_038272.1:n.2043+2020C>G (TTN-AS1)
XM_011511729.1:c.94945G>C (TTN)	XP_011510031.1:p.Glu31649Gln
XM_011511730.1:c.68839G>C (TTN)	XP_011510032.1:p.Glu22947Gln
XM_011511731.1:c.68698G>C (TTN)	XP_011510033.1:p.Glu22900Gln
XM_017004819.1:c.94741G>C (TTN)	XP_016860308.1:p.Glu31581Gln
XM_017004820.1:c.90139G>C (TTN)	XP_016860309.1:p.Glu30047Gln
XM_017004821.1:c.90136G>C (TTN)	XP_016860310.1:p.Glu30046Gln
XM_017004822.1:c.87178G>C (TTN)	XP_016860311.1:p.Glu29060Gln
XM_017004823.1:c.68794G>C (TTN)	XP_016860312.1:p.Glu22932Gln
XM_024453094.1:c.90289G>C (TTN)	XP_024308862.1:p.Glu30097Gln
XM_024453095.1:c.90286G>C (TTN)	XP_024308863.1:p.Glu30096Gln
XM_024453096.1:c.89719G>C (TTN)	XP_024308864.1:p.Glu29907Gln
XM_024453097.1:c.87061G>C (TTN)	XP_024308865.1:p.Glu29021Gln
XM_024453098.1:c.86980G>C (TTN)	XP_024308866.1:p.Glu28994Gln
XM_024453099.1:c.68743G>C (TTN)	XP_024308867.1:p.Glu22915Gln
XM_024453100.1:c.58597G>C (TTN)	XP_024308868.1:p.Glu19533Gln