Canonical Allele Identifier: CA349663575

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178575850C>G , CM000664.2:g.178575850C>G	GRCh38
NC_000002.11:g.179440577C>G , CM000664.1:g.179440577C>G	GRCh37
NC_000002.10:g.179148823C>G	NCBI36
NG_011618.3:g.259953G>C , LRG_391:g.259953G>C
NG_051363.1:g.58024C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.70282G>C (TTN) MANE Select	NP_001254479.2:p.Val23428Leu
ENST00000589042.5:c.70282G>C (TTN) MANE Select	ENSP00000467141.1:p.Val23428Leu
NM_001256850.1:c.65359G>C (TTN)	NP_001243779.1:p.Val21787Leu
NM_003319.4:c.43087G>C (TTN)	NP_003310.4:p.Val14363Leu
NM_133378.4:c.62578G>C (TTN)	NP_596869.4:p.Val20860Leu
NM_133432.3:c.43462G>C (TTN)	NP_597676.3:p.Val14488Leu
NM_133437.4:c.43663G>C (TTN)	NP_597681.4:p.Val14555Leu
NR_038271.1:n.596+4401C>G (TTN-AS1)
NR_038272.1:n.2044-6722C>G (TTN-AS1)
ENST00000342175.10:c.43663G>C (TTN)	ENSP00000340554.6:p.Val14555Leu
ENST00000342175.11:c.43663G>C (TTN)	ENSP00000340554.6:p.Val14555Leu
ENST00000342992.10:c.62578G>C (TTN)	ENSP00000343764.6:p.Val20860Leu
ENST00000342992.11:c.62578G>C (TTN)	ENSP00000343764.6:p.Val20860Leu
ENST00000359218.10:c.43462G>C (TTN)	ENSP00000352154.5:p.Val14488Leu
ENST00000359218.9:c.43462G>C (TTN)	ENSP00000352154.5:p.Val14488Leu
ENST00000460472.6:c.43087G>C (TTN)	ENSP00000434586.1:p.Val14363Leu
ENST00000591111.5:c.65359G>C (TTN)	ENSP00000465570.1:p.Val21787Leu
ENST00000615779.4:c.65359G>C (TTN)	ENSP00000483597.1:p.Val21787Leu
XM_011511729.1:c.69379G>C (TTN)	XP_011510031.1:p.Val23127Leu
XM_011511730.1:c.43273G>C (TTN)	XP_011510032.1:p.Val14425Leu
XM_011511731.1:c.43132G>C (TTN)	XP_011510033.1:p.Val14378Leu
XM_017004819.1:c.69175G>C (TTN)	XP_016860308.1:p.Val23059Leu
XM_017004820.1:c.64573G>C (TTN)	XP_016860309.1:p.Val21525Leu
XM_017004821.1:c.64570G>C (TTN)	XP_016860310.1:p.Val21524Leu
XM_017004822.1:c.61612G>C (TTN)	XP_016860311.1:p.Val20538Leu
XM_017004823.1:c.43228G>C (TTN)	XP_016860312.1:p.Val14410Leu
XM_024453094.1:c.64723G>C (TTN)	XP_024308862.1:p.Val21575Leu
XM_024453095.1:c.64720G>C (TTN)	XP_024308863.1:p.Val21574Leu
XM_024453096.1:c.64153G>C (TTN)	XP_024308864.1:p.Val21385Leu
XM_024453097.1:c.61495G>C (TTN)	XP_024308865.1:p.Val20499Leu
XM_024453098.1:c.61414G>C (TTN)	XP_024308866.1:p.Val20472Leu
XM_024453099.1:c.43177G>C (TTN)	XP_024308867.1:p.Val14393Leu
XM_024453100.1:c.33031G>C (TTN)	XP_024308868.1:p.Val11011Leu