Canonical Allele Identifier: CA310938

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178547469T>G , CM000664.2:g.178547469T>G	GRCh38
NC_000002.11:g.179412196T>G , CM000664.1:g.179412196T>G	GRCh37
NC_000002.10:g.179120442T>G	NCBI36
NG_011618.3:g.288334A>C , LRG_391:g.288334A>C
NG_051363.1:g.29643T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.94157A>C (TTN) MANE Select	NP_001254479.2:p.Glu31386Ala
ENST00000589042.5:c.94157A>C (TTN) MANE Select	ENSP00000467141.1:p.Glu31386Ala
NM_001256850.1:c.89234A>C (TTN)	NP_001243779.1:p.Glu29745Ala
NM_003319.4:c.66962A>C (TTN)	NP_003310.4:p.Glu22321Ala
NM_133378.4:c.86453A>C (TTN)	NP_596869.4:p.Glu28818Ala
NM_133432.3:c.67337A>C (TTN)	NP_597676.3:p.Glu22446Ala
NM_133437.4:c.67538A>C (TTN)	NP_597681.4:p.Glu22513Ala
NR_038271.1:n.447-23831T>G (TTN-AS1)
NR_038272.1:n.2043+5108T>G (TTN-AS1)
ENST00000342175.10:c.67538A>C (TTN)	ENSP00000340554.6:p.Glu22513Ala
ENST00000342175.11:c.67538A>C (TTN)	ENSP00000340554.6:p.Glu22513Ala
ENST00000342992.10:c.86453A>C (TTN)	ENSP00000343764.6:p.Glu28818Ala
ENST00000342992.11:c.86453A>C (TTN)	ENSP00000343764.6:p.Glu28818Ala
ENST00000359218.10:c.67337A>C (TTN)	ENSP00000352154.5:p.Glu22446Ala
ENST00000359218.9:c.67337A>C (TTN)	ENSP00000352154.5:p.Glu22446Ala
ENST00000460472.6:c.66962A>C (TTN)	ENSP00000434586.1:p.Glu22321Ala
ENST00000591111.5:c.89234A>C (TTN)	ENSP00000465570.1:p.Glu29745Ala
ENST00000615779.4:c.89234A>C (TTN)	ENSP00000483597.1:p.Glu29745Ala
XM_011511729.1:c.93254A>C (TTN)	XP_011510031.1:p.Glu31085Ala
XM_011511730.1:c.67148A>C (TTN)	XP_011510032.1:p.Glu22383Ala
XM_011511731.1:c.67007A>C (TTN)	XP_011510033.1:p.Glu22336Ala
XM_017004819.1:c.93050A>C (TTN)	XP_016860308.1:p.Glu31017Ala
XM_017004820.1:c.88448A>C (TTN)	XP_016860309.1:p.Glu29483Ala
XM_017004821.1:c.88445A>C (TTN)	XP_016860310.1:p.Glu29482Ala
XM_017004822.1:c.85487A>C (TTN)	XP_016860311.1:p.Glu28496Ala
XM_017004823.1:c.67103A>C (TTN)	XP_016860312.1:p.Glu22368Ala
XM_024453094.1:c.88598A>C (TTN)	XP_024308862.1:p.Glu29533Ala
XM_024453095.1:c.88595A>C (TTN)	XP_024308863.1:p.Glu29532Ala
XM_024453096.1:c.88028A>C (TTN)	XP_024308864.1:p.Glu29343Ala
XM_024453097.1:c.85370A>C (TTN)	XP_024308865.1:p.Glu28457Ala
XM_024453098.1:c.85289A>C (TTN)	XP_024308866.1:p.Glu28430Ala
XM_024453099.1:c.67052A>C (TTN)	XP_024308867.1:p.Glu22351Ala
XM_024453100.1:c.56906A>C (TTN)	XP_024308868.1:p.Glu18969Ala