Canonical Allele Identifier: CA349665255

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179440817C>G (hg19) ; chr2:g.178576090C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178576090C>G , CM000664.2:g.178576090C>G	GRCh38
NC_000002.11:g.179440817C>G , CM000664.1:g.179440817C>G	GRCh37
NC_000002.10:g.179149063C>G	NCBI36
NG_011618.3:g.259713G>C , LRG_391:g.259713G>C
NG_051363.1:g.58264C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.62338G>C (TTN)	ENSP00000343764.6:p.Ala20780Pro
ENST00000342175.11:c.43423G>C (TTN)	ENSP00000340554.6:p.Ala14475Pro
ENST00000359218.10:c.43222G>C (TTN)	ENSP00000352154.5:p.Ala14408Pro
ENST00000342175.10:c.43423G>C (TTN)	ENSP00000340554.6:p.Ala14475Pro
ENST00000342992.10:c.62338G>C (TTN)	ENSP00000343764.6:p.Ala20780Pro
ENST00000359218.9:c.43222G>C (TTN)	ENSP00000352154.5:p.Ala14408Pro
ENST00000460472.6:c.42847G>C (TTN)	ENSP00000434586.1:p.Ala14283Pro
ENST00000589042.5:c.70042G>C (TTN) MANE Select	ENSP00000467141.1:p.Ala23348Pro
ENST00000591111.5:c.65119G>C (TTN)	ENSP00000465570.1:p.Ala21707Pro
ENST00000615779.4:c.65119G>C (TTN)	ENSP00000483597.1:p.Ala21707Pro
NM_001256850.1:c.65119G>C (TTN)	NP_001243779.1:p.Ala21707Pro
NM_001267550.2:c.70042G>C (TTN) MANE Select	NP_001254479.2:p.Ala23348Pro
NM_003319.4:c.42847G>C (TTN)	NP_003310.4:p.Ala14283Pro
NM_133378.4:c.62338G>C (TTN)	NP_596869.4:p.Ala20780Pro
NM_133432.3:c.43222G>C (TTN)	NP_597676.3:p.Ala14408Pro
NM_133437.4:c.43423G>C (TTN)	NP_597681.4:p.Ala14475Pro
NR_038271.1:n.596+4641C>G (TTN-AS1)
NR_038272.1:n.2044-6482C>G (TTN-AS1)
XM_011511729.1:c.69139G>C (TTN)	XP_011510031.1:p.Ala23047Pro
XM_011511730.1:c.43033G>C (TTN)	XP_011510032.1:p.Ala14345Pro
XM_011511731.1:c.42892G>C (TTN)	XP_011510033.1:p.Ala14298Pro
XM_017004819.1:c.68935G>C (TTN)	XP_016860308.1:p.Ala22979Pro
XM_017004820.1:c.64333G>C (TTN)	XP_016860309.1:p.Ala21445Pro
XM_017004821.1:c.64330G>C (TTN)	XP_016860310.1:p.Ala21444Pro
XM_017004822.1:c.61372G>C (TTN)	XP_016860311.1:p.Ala20458Pro
XM_017004823.1:c.42988G>C (TTN)	XP_016860312.1:p.Ala14330Pro
XM_024453094.1:c.64483G>C (TTN)	XP_024308862.1:p.Ala21495Pro
XM_024453095.1:c.64480G>C (TTN)	XP_024308863.1:p.Ala21494Pro
XM_024453096.1:c.63913G>C (TTN)	XP_024308864.1:p.Ala21305Pro
XM_024453097.1:c.61255G>C (TTN)	XP_024308865.1:p.Ala20419Pro
XM_024453098.1:c.61174G>C (TTN)	XP_024308866.1:p.Ala20392Pro
XM_024453099.1:c.42937G>C (TTN)	XP_024308867.1:p.Ala14313Pro
XM_024453100.1:c.32791G>C (TTN)	XP_024308868.1:p.Ala10931Pro