Canonical Allele Identifier: CA349407005

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179395228A>C (hg19) ; chr2:g.178530501A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530501A>C , CM000664.2:g.178530501A>C	GRCh38
NC_000002.11:g.179395228A>C , CM000664.1:g.179395228A>C	GRCh37
NC_000002.10:g.179103474A>C	NCBI36
NG_011618.3:g.305302T>G , LRG_391:g.305302T>G
NG_051363.1:g.12675A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98410T>G (TTN)	ENSP00000343764.6:p.Leu32804Val
ENST00000342175.11:c.79495T>G (TTN)	ENSP00000340554.6:p.Leu26499Val
ENST00000359218.10:c.79294T>G (TTN)	ENSP00000352154.5:p.Leu26432Val
ENST00000342175.10:c.79495T>G (TTN)	ENSP00000340554.6:p.Leu26499Val
ENST00000342992.10:c.98410T>G (TTN)	ENSP00000343764.6:p.Leu32804Val
ENST00000359218.9:c.79294T>G (TTN)	ENSP00000352154.5:p.Leu26432Val
ENST00000460472.6:c.78919T>G (TTN)	ENSP00000434586.1:p.Leu26307Val
ENST00000589042.5:c.106114T>G (TTN) MANE Select	ENSP00000467141.1:p.Leu35372Val
ENST00000591111.5:c.101191T>G (TTN)	ENSP00000465570.1:p.Leu33731Val
ENST00000615779.4:c.101191T>G (TTN)	ENSP00000483597.1:p.Leu33731Val
NM_001256850.1:c.101191T>G (TTN)	NP_001243779.1:p.Leu33731Val
NM_001267550.2:c.106114T>G (TTN) MANE Select	NP_001254479.2:p.Leu35372Val
NM_003319.4:c.78919T>G (TTN)	NP_003310.4:p.Leu26307Val
NM_133378.4:c.98410T>G (TTN)	NP_596869.4:p.Leu32804Val
NM_133432.3:c.79294T>G (TTN)	NP_597676.3:p.Leu26432Val
NM_133437.4:c.79495T>G (TTN)	NP_597681.4:p.Leu26499Val
NR_038271.1:n.446+6865A>C (TTN-AS1)
NR_038272.1:n.220-5231A>C (TTN-AS1)
XM_011511729.1:c.105211T>G (TTN)	XP_011510031.1:p.Leu35071Val
XM_011511730.1:c.79105T>G (TTN)	XP_011510032.1:p.Leu26369Val
XM_011511731.1:c.78964T>G (TTN)	XP_011510033.1:p.Leu26322Val
XM_017004819.1:c.105007T>G (TTN)	XP_016860308.1:p.Leu35003Val
XM_017004820.1:c.100405T>G (TTN)	XP_016860309.1:p.Leu33469Val
XM_017004821.1:c.100402T>G (TTN)	XP_016860310.1:p.Leu33468Val
XM_017004822.1:c.97444T>G (TTN)	XP_016860311.1:p.Leu32482Val
XM_017004823.1:c.79060T>G (TTN)	XP_016860312.1:p.Leu26354Val
XM_024453094.1:c.100555T>G (TTN)	XP_024308862.1:p.Leu33519Val
XM_024453095.1:c.100552T>G (TTN)	XP_024308863.1:p.Leu33518Val
XM_024453096.1:c.99985T>G (TTN)	XP_024308864.1:p.Leu33329Val
XM_024453097.1:c.97327T>G (TTN)	XP_024308865.1:p.Leu32443Val
XM_024453098.1:c.97246T>G (TTN)	XP_024308866.1:p.Leu32416Val
XM_024453099.1:c.79009T>G (TTN)	XP_024308867.1:p.Leu26337Val
XM_024453100.1:c.68863T>G (TTN)	XP_024308868.1:p.Leu22955Val