Canonical Allele Identifier: CA2573051776

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1315261
• ClinVar RCV Id: RCV001774511
• dbSNP Id: rs2154168938

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178570938_178570939delinsGT , CM000664.2:g.178570938_178570939delinsGT	GRCh38
NC_000002.11:g.179435665_179435666delinsGT , CM000664.1:g.179435665_179435666delinsGT	GRCh37
NC_000002.10:g.179143911_179143912delinsGT	NCBI36
NG_011618.3:g.264864_264865delinsAC , LRG_391:g.264864_264865delinsAC
NG_051363.1:g.53112_53113delinsGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.67489_67490delinsAC (TTN)	ENSP00000343764.6:p.His22497Thr
ENST00000342175.11:c.48574_48575delinsAC (TTN)	ENSP00000340554.6:p.His16192Thr
ENST00000359218.10:c.48373_48374delinsAC (TTN)	ENSP00000352154.5:p.His16125Thr
ENST00000342175.10:c.48574_48575delinsAC (TTN)	ENSP00000340554.6:p.His16192Thr
ENST00000342992.10:c.67489_67490delinsAC (TTN)	ENSP00000343764.6:p.His22497Thr
ENST00000359218.9:c.48373_48374delinsAC (TTN)	ENSP00000352154.5:p.His16125Thr
ENST00000460472.6:c.47998_47999delinsAC (TTN)	ENSP00000434586.1:p.His16000Thr
ENST00000589042.5:c.75193_75194delinsAC (TTN) MANE Select	ENSP00000467141.1:p.His25065Thr
ENST00000591111.5:c.70270_70271delinsAC (TTN)	ENSP00000465570.1:p.His23424Thr
ENST00000615779.4:c.70270_70271delinsAC (TTN)	ENSP00000483597.1:p.His23424Thr
NM_001256850.1:c.70270_70271delinsAC (TTN)	NP_001243779.1:p.His23424Thr
NM_001267550.2:c.75193_75194delinsAC (TTN) MANE Select	NP_001254479.2:p.His25065Thr
NM_003319.4:c.47998_47999delinsAC (TTN)	NP_003310.4:p.His16000Thr
NM_133378.4:c.67489_67490delinsAC (TTN)	NP_596869.4:p.His22497Thr
NM_133432.3:c.48373_48374delinsAC (TTN)	NP_597676.3:p.His16125Thr
NM_133437.4:c.48574_48575delinsAC (TTN)	NP_597681.4:p.His16192Thr
NR_038271.1:n.447-362_447-361delinsGT (TTN-AS1)
NR_038272.1:n.2044-11634_2044-11633delinsGT (TTN-AS1)
XM_011511729.1:c.74290_74291delinsAC (TTN)	XP_011510031.1:p.His24764Thr
XM_011511730.1:c.48184_48185delinsAC (TTN)	XP_011510032.1:p.His16062Thr
XM_011511731.1:c.48043_48044delinsAC (TTN)	XP_011510033.1:p.His16015Thr
XM_017004819.1:c.74086_74087delinsAC (TTN)	XP_016860308.1:p.His24696Thr
XM_017004820.1:c.69484_69485delinsAC (TTN)	XP_016860309.1:p.His23162Thr
XM_017004821.1:c.69481_69482delinsAC (TTN)	XP_016860310.1:p.His23161Thr
XM_017004822.1:c.66523_66524delinsAC (TTN)	XP_016860311.1:p.His22175Thr
XM_017004823.1:c.48139_48140delinsAC (TTN)	XP_016860312.1:p.His16047Thr
XM_024453094.1:c.69634_69635delinsAC (TTN)	XP_024308862.1:p.His23212Thr
XM_024453095.1:c.69631_69632delinsAC (TTN)	XP_024308863.1:p.His23211Thr
XM_024453096.1:c.69064_69065delinsAC (TTN)	XP_024308864.1:p.His23022Thr
XM_024453097.1:c.66406_66407delinsAC (TTN)	XP_024308865.1:p.His22136Thr
XM_024453098.1:c.66325_66326delinsAC (TTN)	XP_024308866.1:p.His22109Thr
XM_024453099.1:c.48088_48089delinsAC (TTN)	XP_024308867.1:p.His16030Thr
XM_024453100.1:c.37942_37943delinsAC (TTN)	XP_024308868.1:p.His12648Thr