Canonical Allele Identifier: CA349628184

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179435671T>G (hg19) ; chr2:g.178570944T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178570944T>G , CM000664.2:g.178570944T>G	GRCh38
NC_000002.11:g.179435671T>G , CM000664.1:g.179435671T>G	GRCh37
NC_000002.10:g.179143917T>G	NCBI36
NG_011618.3:g.264859A>C , LRG_391:g.264859A>C
NG_051363.1:g.53118T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.67484A>C (TTN)	ENSP00000343764.6:p.Asp22495Ala
ENST00000342175.11:c.48569A>C (TTN)	ENSP00000340554.6:p.Asp16190Ala
ENST00000359218.10:c.48368A>C (TTN)	ENSP00000352154.5:p.Asp16123Ala
ENST00000342175.10:c.48569A>C (TTN)	ENSP00000340554.6:p.Asp16190Ala
ENST00000342992.10:c.67484A>C (TTN)	ENSP00000343764.6:p.Asp22495Ala
ENST00000359218.9:c.48368A>C (TTN)	ENSP00000352154.5:p.Asp16123Ala
ENST00000460472.6:c.47993A>C (TTN)	ENSP00000434586.1:p.Asp15998Ala
ENST00000589042.5:c.75188A>C (TTN) MANE Select	ENSP00000467141.1:p.Asp25063Ala
ENST00000591111.5:c.70265A>C (TTN)	ENSP00000465570.1:p.Asp23422Ala
ENST00000615779.4:c.70265A>C (TTN)	ENSP00000483597.1:p.Asp23422Ala
NM_001256850.1:c.70265A>C (TTN)	NP_001243779.1:p.Asp23422Ala
NM_001267550.2:c.75188A>C (TTN) MANE Select	NP_001254479.2:p.Asp25063Ala
NM_003319.4:c.47993A>C (TTN)	NP_003310.4:p.Asp15998Ala
NM_133378.4:c.67484A>C (TTN)	NP_596869.4:p.Asp22495Ala
NM_133432.3:c.48368A>C (TTN)	NP_597676.3:p.Asp16123Ala
NM_133437.4:c.48569A>C (TTN)	NP_597681.4:p.Asp16190Ala
NR_038271.1:n.447-356T>G (TTN-AS1)
NR_038272.1:n.2044-11628T>G (TTN-AS1)
XM_011511729.1:c.74285A>C (TTN)	XP_011510031.1:p.Asp24762Ala
XM_011511730.1:c.48179A>C (TTN)	XP_011510032.1:p.Asp16060Ala
XM_011511731.1:c.48038A>C (TTN)	XP_011510033.1:p.Asp16013Ala
XM_017004819.1:c.74081A>C (TTN)	XP_016860308.1:p.Asp24694Ala
XM_017004820.1:c.69479A>C (TTN)	XP_016860309.1:p.Asp23160Ala
XM_017004821.1:c.69476A>C (TTN)	XP_016860310.1:p.Asp23159Ala
XM_017004822.1:c.66518A>C (TTN)	XP_016860311.1:p.Asp22173Ala
XM_017004823.1:c.48134A>C (TTN)	XP_016860312.1:p.Asp16045Ala
XM_024453094.1:c.69629A>C (TTN)	XP_024308862.1:p.Asp23210Ala
XM_024453095.1:c.69626A>C (TTN)	XP_024308863.1:p.Asp23209Ala
XM_024453096.1:c.69059A>C (TTN)	XP_024308864.1:p.Asp23020Ala
XM_024453097.1:c.66401A>C (TTN)	XP_024308865.1:p.Asp22134Ala
XM_024453098.1:c.66320A>C (TTN)	XP_024308866.1:p.Asp22107Ala
XM_024453099.1:c.48083A>C (TTN)	XP_024308867.1:p.Asp16028Ala
XM_024453100.1:c.37937A>C (TTN)	XP_024308868.1:p.Asp12646Ala