Canonical Allele Identifier: CA349455655

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179408997C>G (hg19) ; chr2:g.178544270C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544270C>G , CM000664.2:g.178544270C>G	GRCh38
NC_000002.11:g.179408997C>G , CM000664.1:g.179408997C>G	GRCh37
NC_000002.10:g.179117243C>G	NCBI36
NG_011618.3:g.291533G>C , LRG_391:g.291533G>C
NG_051363.1:g.26444C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88255G>C (TTN)	ENSP00000343764.6:p.Ala29419Pro
ENST00000342175.11:c.69340G>C (TTN)	ENSP00000340554.6:p.Ala23114Pro
ENST00000359218.10:c.69139G>C (TTN)	ENSP00000352154.5:p.Ala23047Pro
ENST00000342175.10:c.69340G>C (TTN)	ENSP00000340554.6:p.Ala23114Pro
ENST00000342992.10:c.88255G>C (TTN)	ENSP00000343764.6:p.Ala29419Pro
ENST00000359218.9:c.69139G>C (TTN)	ENSP00000352154.5:p.Ala23047Pro
ENST00000460472.6:c.68764G>C (TTN)	ENSP00000434586.1:p.Ala22922Pro
ENST00000589042.5:c.95959G>C (TTN) MANE Select	ENSP00000467141.1:p.Ala31987Pro
ENST00000591111.5:c.91036G>C (TTN)	ENSP00000465570.1:p.Ala30346Pro
ENST00000615779.4:c.91036G>C (TTN)	ENSP00000483597.1:p.Ala30346Pro
NM_001256850.1:c.91036G>C (TTN)	NP_001243779.1:p.Ala30346Pro
NM_001267550.2:c.95959G>C (TTN) MANE Select	NP_001254479.2:p.Ala31987Pro
NM_003319.4:c.68764G>C (TTN)	NP_003310.4:p.Ala22922Pro
NM_133378.4:c.88255G>C (TTN)	NP_596869.4:p.Ala29419Pro
NM_133432.3:c.69139G>C (TTN)	NP_597676.3:p.Ala23047Pro
NM_133437.4:c.69340G>C (TTN)	NP_597681.4:p.Ala23114Pro
NR_038271.1:n.446+20634C>G (TTN-AS1)
NR_038272.1:n.2043+1909C>G (TTN-AS1)
XM_011511729.1:c.95056G>C (TTN)	XP_011510031.1:p.Ala31686Pro
XM_011511730.1:c.68950G>C (TTN)	XP_011510032.1:p.Ala22984Pro
XM_011511731.1:c.68809G>C (TTN)	XP_011510033.1:p.Ala22937Pro
XM_017004819.1:c.94852G>C (TTN)	XP_016860308.1:p.Ala31618Pro
XM_017004820.1:c.90250G>C (TTN)	XP_016860309.1:p.Ala30084Pro
XM_017004821.1:c.90247G>C (TTN)	XP_016860310.1:p.Ala30083Pro
XM_017004822.1:c.87289G>C (TTN)	XP_016860311.1:p.Ala29097Pro
XM_017004823.1:c.68905G>C (TTN)	XP_016860312.1:p.Ala22969Pro
XM_024453094.1:c.90400G>C (TTN)	XP_024308862.1:p.Ala30134Pro
XM_024453095.1:c.90397G>C (TTN)	XP_024308863.1:p.Ala30133Pro
XM_024453096.1:c.89830G>C (TTN)	XP_024308864.1:p.Ala29944Pro
XM_024453097.1:c.87172G>C (TTN)	XP_024308865.1:p.Ala29058Pro
XM_024453098.1:c.87091G>C (TTN)	XP_024308866.1:p.Ala29031Pro
XM_024453099.1:c.68854G>C (TTN)	XP_024308867.1:p.Ala22952Pro
XM_024453100.1:c.58708G>C (TTN)	XP_024308868.1:p.Ala19570Pro