Canonical Allele Identifier: CA2573134076

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1532188
• ClinVar RCV Id: RCV002106904 ; RCV002498097
• dbSNP Id: rs2154137874
• gnomAD v4: 2-178536921-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178536921_178536922insT , CM000664.2:g.178536921_178536922insT	GRCh38
NC_000002.11:g.179401648_179401649insT , CM000664.1:g.179401648_179401649insT	GRCh37
NC_000002.10:g.179109894_179109895insT	NCBI36
NG_011618.3:g.298881_298882insA , LRG_391:g.298881_298882insA
NG_051363.1:g.19095_19096insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.92467+16_92467+17insA (TTN)	ENSP00000343764.6:n.92467+16_92467+17insA
ENST00000342175.11:c.73552+16_73552+17insA (TTN)	ENSP00000340554.6:n.73552+16_73552+17insA
ENST00000359218.10:c.73351+16_73351+17insA (TTN)	ENSP00000352154.5:n.73351+16_73351+17insA
ENST00000342175.10:c.73552+16_73552+17insA (TTN)	ENSP00000340554.6:n.73552+16_73552+17insA
ENST00000342992.10:c.92467+16_92467+17insA (TTN)	ENSP00000343764.6:n.92467+16_92467+17insA
ENST00000359218.9:c.73351+16_73351+17insA (TTN)	ENSP00000352154.5:n.73351+16_73351+17insA
ENST00000460472.6:c.72976+16_72976+17insA (TTN)	ENSP00000434586.1:n.72976+16_72976+17insA
ENST00000589042.5:c.100171+16_100171+17insA (TTN) MANE Select	ENSP00000467141.1:n.100171+16_100171+17insA
ENST00000591111.5:c.95248+16_95248+17insA (TTN)	ENSP00000465570.1:n.95248+16_95248+17insA
ENST00000615779.4:c.95248+16_95248+17insA (TTN)	ENSP00000483597.1:n.95248+16_95248+17insA
NM_001256850.1:c.95248+16_95248+17insA (TTN)	NP_001243779.1:n.95248+16_95248+17insA
NM_001267550.2:c.100171+16_100171+17insA (TTN) MANE Select	NP_001254479.2:n.100171+16_100171+17insA
NM_003319.4:c.72976+16_72976+17insA (TTN)	NP_003310.4:n.72976+16_72976+17insA
NM_133378.4:c.92467+16_92467+17insA (TTN)	NP_596869.4:n.92467+16_92467+17insA
NM_133432.3:c.73351+16_73351+17insA (TTN)	NP_597676.3:n.73351+16_73351+17insA
NM_133437.4:c.73552+16_73552+17insA (TTN)	NP_597681.4:n.73552+16_73552+17insA
NR_038271.1:n.446+13285_446+13286insT (TTN-AS1)
NR_038272.1:n.317-440_317-439insT (TTN-AS1)
XM_011511729.1:c.99268+16_99268+17insA (TTN)	XP_011510031.1:n.99268+16_99268+17insA
XM_011511730.1:c.73162+16_73162+17insA (TTN)	XP_011510032.1:n.73162+16_73162+17insA
XM_011511731.1:c.73021+16_73021+17insA (TTN)	XP_011510033.1:n.73021+16_73021+17insA
XM_017004819.1:c.99064+16_99064+17insA (TTN)	XP_016860308.1:n.99064+16_99064+17insA
XM_017004820.1:c.94462+16_94462+17insA (TTN)	XP_016860309.1:n.94462+16_94462+17insA
XM_017004821.1:c.94459+16_94459+17insA (TTN)	XP_016860310.1:n.94459+16_94459+17insA
XM_017004822.1:c.91501+16_91501+17insA (TTN)	XP_016860311.1:n.91501+16_91501+17insA
XM_017004823.1:c.73117+16_73117+17insA (TTN)	XP_016860312.1:n.73117+16_73117+17insA
XM_024453094.1:c.94612+16_94612+17insA (TTN)	XP_024308862.1:n.94612+16_94612+17insA
XM_024453095.1:c.94609+16_94609+17insA (TTN)	XP_024308863.1:n.94609+16_94609+17insA
XM_024453096.1:c.94042+16_94042+17insA (TTN)	XP_024308864.1:n.94042+16_94042+17insA
XM_024453097.1:c.91384+16_91384+17insA (TTN)	XP_024308865.1:n.91384+16_91384+17insA
XM_024453098.1:c.91303+16_91303+17insA (TTN)	XP_024308866.1:n.91303+16_91303+17insA
XM_024453099.1:c.73066+16_73066+17insA (TTN)	XP_024308867.1:n.73066+16_73066+17insA
XM_024453100.1:c.62920+16_62920+17insA (TTN)	XP_024308868.1:n.62920+16_62920+17insA