Canonical Allele Identifier: CA349471130

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179411448G>C (hg19) ; chr2:g.178546721G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178546721G>C , CM000664.2:g.178546721G>C	GRCh38
NC_000002.11:g.179411448G>C , CM000664.1:g.179411448G>C	GRCh37
NC_000002.10:g.179119694G>C	NCBI36
NG_011618.3:g.289082C>G , LRG_391:g.289082C>G
NG_051363.1:g.28895G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.87003C>G (TTN)	ENSP00000343764.6:p.Phe29001Leu
ENST00000342175.11:c.68088C>G (TTN)	ENSP00000340554.6:p.Phe22696Leu
ENST00000359218.10:c.67887C>G (TTN)	ENSP00000352154.5:p.Phe22629Leu
ENST00000342175.10:c.68088C>G (TTN)	ENSP00000340554.6:p.Phe22696Leu
ENST00000342992.10:c.87003C>G (TTN)	ENSP00000343764.6:p.Phe29001Leu
ENST00000359218.9:c.67887C>G (TTN)	ENSP00000352154.5:p.Phe22629Leu
ENST00000460472.6:c.67512C>G (TTN)	ENSP00000434586.1:p.Phe22504Leu
ENST00000589042.5:c.94707C>G (TTN) MANE Select	ENSP00000467141.1:p.Phe31569Leu
ENST00000591111.5:c.89784C>G (TTN)	ENSP00000465570.1:p.Phe29928Leu
ENST00000615779.4:c.89784C>G (TTN)	ENSP00000483597.1:p.Phe29928Leu
NM_001256850.1:c.89784C>G (TTN)	NP_001243779.1:p.Phe29928Leu
NM_001267550.2:c.94707C>G (TTN) MANE Select	NP_001254479.2:p.Phe31569Leu
NM_003319.4:c.67512C>G (TTN)	NP_003310.4:p.Phe22504Leu
NM_133378.4:c.87003C>G (TTN)	NP_596869.4:p.Phe29001Leu
NM_133432.3:c.67887C>G (TTN)	NP_597676.3:p.Phe22629Leu
NM_133437.4:c.68088C>G (TTN)	NP_597681.4:p.Phe22696Leu
NR_038271.1:n.446+23085G>C (TTN-AS1)
NR_038272.1:n.2043+4360G>C (TTN-AS1)
XM_011511729.1:c.93804C>G (TTN)	XP_011510031.1:p.Phe31268Leu
XM_011511730.1:c.67698C>G (TTN)	XP_011510032.1:p.Phe22566Leu
XM_011511731.1:c.67557C>G (TTN)	XP_011510033.1:p.Phe22519Leu
XM_017004819.1:c.93600C>G (TTN)	XP_016860308.1:p.Phe31200Leu
XM_017004820.1:c.88998C>G (TTN)	XP_016860309.1:p.Phe29666Leu
XM_017004821.1:c.88995C>G (TTN)	XP_016860310.1:p.Phe29665Leu
XM_017004822.1:c.86037C>G (TTN)	XP_016860311.1:p.Phe28679Leu
XM_017004823.1:c.67653C>G (TTN)	XP_016860312.1:p.Phe22551Leu
XM_024453094.1:c.89148C>G (TTN)	XP_024308862.1:p.Phe29716Leu
XM_024453095.1:c.89145C>G (TTN)	XP_024308863.1:p.Phe29715Leu
XM_024453096.1:c.88578C>G (TTN)	XP_024308864.1:p.Phe29526Leu
XM_024453097.1:c.85920C>G (TTN)	XP_024308865.1:p.Phe28640Leu
XM_024453098.1:c.85839C>G (TTN)	XP_024308866.1:p.Phe28613Leu
XM_024453099.1:c.67602C>G (TTN)	XP_024308867.1:p.Phe22534Leu
XM_024453100.1:c.57456C>G (TTN)	XP_024308868.1:p.Phe19152Leu