Canonical Allele Identifier: CA349514849

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178595606G>A , CM000664.2:g.178595606G>A	GRCh38
NC_000002.11:g.179460333G>A , CM000664.1:g.179460333G>A	GRCh37
NC_000002.10:g.179168579G>A	NCBI36
NG_011618.3:g.240197C>T , LRG_391:g.240197C>T
NG_051363.1:g.77780G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.57748C>T (TTN) MANE Select	NP_001254479.2:p.Gln19250Ter
ENST00000589042.5:c.57748C>T (TTN) MANE Select	ENSP00000467141.1:p.Gln19250Ter
NM_001256850.1:c.52825C>T (TTN)	NP_001243779.1:p.Gln17609Ter
NM_003319.4:c.30553C>T (TTN)	NP_003310.4:p.Gln10185Ter
NM_133378.4:c.50044C>T (TTN)	NP_596869.4:p.Gln16682Ter
NM_133432.3:c.30928C>T (TTN)	NP_597676.3:p.Gln10310Ter
NM_133437.4:c.31129C>T (TTN)	NP_597681.4:p.Gln10377Ter
NR_038271.1:n.597-1990G>A (TTN-AS1)
NR_038272.1:n.3365-1990G>A (TTN-AS1)
ENST00000342175.10:c.31129C>T (TTN)	ENSP00000340554.6:p.Gln10377Ter
ENST00000342175.11:c.31129C>T (TTN)	ENSP00000340554.6:p.Gln10377Ter
ENST00000342992.10:c.50044C>T (TTN)	ENSP00000343764.6:p.Gln16682Ter
ENST00000342992.11:c.50044C>T (TTN)	ENSP00000343764.6:p.Gln16682Ter
ENST00000359218.10:c.30928C>T (TTN)	ENSP00000352154.5:p.Gln10310Ter
ENST00000359218.9:c.30928C>T (TTN)	ENSP00000352154.5:p.Gln10310Ter
ENST00000460472.6:c.30553C>T (TTN)	ENSP00000434586.1:p.Gln10185Ter
ENST00000591111.5:c.52825C>T (TTN)	ENSP00000465570.1:p.Gln17609Ter
ENST00000615779.4:c.52825C>T (TTN)	ENSP00000483597.1:p.Gln17609Ter
XM_011511729.1:c.56845C>T (TTN)	XP_011510031.1:p.Gln18949Ter
XM_011511730.1:c.30739C>T (TTN)	XP_011510032.1:p.Gln10247Ter
XM_011511731.1:c.30598C>T (TTN)	XP_011510033.1:p.Gln10200Ter
XM_017004819.1:c.56641C>T (TTN)	XP_016860308.1:p.Gln18881Ter
XM_017004820.1:c.52039C>T (TTN)	XP_016860309.1:p.Gln17347Ter
XM_017004821.1:c.52036C>T (TTN)	XP_016860310.1:p.Gln17346Ter
XM_017004822.1:c.49078C>T (TTN)	XP_016860311.1:p.Gln16360Ter
XM_017004823.1:c.30694C>T (TTN)	XP_016860312.1:p.Gln10232Ter
XM_024453094.1:c.52189C>T (TTN)	XP_024308862.1:p.Gln17397Ter
XM_024453095.1:c.52186C>T (TTN)	XP_024308863.1:p.Gln17396Ter
XM_024453096.1:c.51619C>T (TTN)	XP_024308864.1:p.Gln17207Ter
XM_024453097.1:c.48961C>T (TTN)	XP_024308865.1:p.Gln16321Ter
XM_024453098.1:c.48880C>T (TTN)	XP_024308866.1:p.Gln16294Ter
XM_024453099.1:c.30643C>T (TTN)	XP_024308867.1:p.Gln10215Ter
XM_024453100.1:c.20497C>T (TTN)	XP_024308868.1:p.Gln6833Ter