Canonical Allele Identifier: CA349496397

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179414587C>G (hg19) ; chr2:g.178549860C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178549860C>G , CM000664.2:g.178549860C>G	GRCh38
NC_000002.11:g.179414587C>G , CM000664.1:g.179414587C>G	GRCh37
NC_000002.10:g.179122833C>G	NCBI36
NG_011618.3:g.285943G>C , LRG_391:g.285943G>C
NG_051363.1:g.32034C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.84158G>C (TTN)	ENSP00000343764.6:p.Gly28053Ala
ENST00000342175.11:c.65243G>C (TTN)	ENSP00000340554.6:p.Gly21748Ala
ENST00000359218.10:c.65042G>C (TTN)	ENSP00000352154.5:p.Gly21681Ala
ENST00000342175.10:c.65243G>C (TTN)	ENSP00000340554.6:p.Gly21748Ala
ENST00000342992.10:c.84158G>C (TTN)	ENSP00000343764.6:p.Gly28053Ala
ENST00000359218.9:c.65042G>C (TTN)	ENSP00000352154.5:p.Gly21681Ala
ENST00000460472.6:c.64667G>C (TTN)	ENSP00000434586.1:p.Gly21556Ala
ENST00000589042.5:c.91862G>C (TTN) MANE Select	ENSP00000467141.1:p.Gly30621Ala
ENST00000591111.5:c.86939G>C (TTN)	ENSP00000465570.1:p.Gly28980Ala
ENST00000615779.4:c.86939G>C (TTN)	ENSP00000483597.1:p.Gly28980Ala
NM_001256850.1:c.86939G>C (TTN)	NP_001243779.1:p.Gly28980Ala
NM_001267550.2:c.91862G>C (TTN) MANE Select	NP_001254479.2:p.Gly30621Ala
NM_003319.4:c.64667G>C (TTN)	NP_003310.4:p.Gly21556Ala
NM_133378.4:c.84158G>C (TTN)	NP_596869.4:p.Gly28053Ala
NM_133432.3:c.65042G>C (TTN)	NP_597676.3:p.Gly21681Ala
NM_133437.4:c.65243G>C (TTN)	NP_597681.4:p.Gly21748Ala
NR_038271.1:n.447-21440C>G (TTN-AS1)
NR_038272.1:n.2043+7499C>G (TTN-AS1)
XM_011511729.1:c.90959G>C (TTN)	XP_011510031.1:p.Gly30320Ala
XM_011511730.1:c.64853G>C (TTN)	XP_011510032.1:p.Gly21618Ala
XM_011511731.1:c.64712G>C (TTN)	XP_011510033.1:p.Gly21571Ala
XM_017004819.1:c.90755G>C (TTN)	XP_016860308.1:p.Gly30252Ala
XM_017004820.1:c.86153G>C (TTN)	XP_016860309.1:p.Gly28718Ala
XM_017004821.1:c.86150G>C (TTN)	XP_016860310.1:p.Gly28717Ala
XM_017004822.1:c.83192G>C (TTN)	XP_016860311.1:p.Gly27731Ala
XM_017004823.1:c.64808G>C (TTN)	XP_016860312.1:p.Gly21603Ala
XM_024453094.1:c.86303G>C (TTN)	XP_024308862.1:p.Gly28768Ala
XM_024453095.1:c.86300G>C (TTN)	XP_024308863.1:p.Gly28767Ala
XM_024453096.1:c.85733G>C (TTN)	XP_024308864.1:p.Gly28578Ala
XM_024453097.1:c.83075G>C (TTN)	XP_024308865.1:p.Gly27692Ala
XM_024453098.1:c.82994G>C (TTN)	XP_024308866.1:p.Gly27665Ala
XM_024453099.1:c.64757G>C (TTN)	XP_024308867.1:p.Gly21586Ala
XM_024453100.1:c.54611G>C (TTN)	XP_024308868.1:p.Gly18204Ala