Canonical Allele Identifier: CA349519449

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178597537C>T , CM000664.2:g.178597537C>T	GRCh38
NC_000002.11:g.179462264C>T , CM000664.1:g.179462264C>T	GRCh37
NC_000002.10:g.179170510C>T	NCBI36
NG_011618.3:g.238266G>A , LRG_391:g.238266G>A
NG_051363.1:g.79711C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.57544+1G>A (TTN) MANE Select	NP_001254479.2:n.57544+1G>A
ENST00000589042.5:c.57544+1G>A (TTN) MANE Select	ENSP00000467141.1:n.57544+1G>A
NM_001256850.1:c.52621+1G>A (TTN)	NP_001243779.1:n.52621+1G>A
NM_003319.4:c.30349+1G>A (TTN)	NP_003310.4:n.30349+1G>A
NM_133378.4:c.49840+1G>A (TTN)	NP_596869.4:n.49840+1G>A
NM_133432.3:c.30724+1G>A (TTN)	NP_597676.3:n.30724+1G>A
NM_133437.4:c.30925+1G>A (TTN)	NP_597681.4:n.30925+1G>A
NR_038271.1:n.597-59C>T (TTN-AS1)
NR_038272.1:n.3365-59C>T (TTN-AS1)
ENST00000342175.10:c.30925+1G>A (TTN)	ENSP00000340554.6:n.30925+1G>A
ENST00000342175.11:c.30925+1G>A (TTN)	ENSP00000340554.6:n.30925+1G>A
ENST00000342992.10:c.49840+1G>A (TTN)	ENSP00000343764.6:n.49840+1G>A
ENST00000342992.11:c.49840+1G>A (TTN)	ENSP00000343764.6:n.49840+1G>A
ENST00000359218.10:c.30724+1G>A (TTN)	ENSP00000352154.5:n.30724+1G>A
ENST00000359218.9:c.30724+1G>A (TTN)	ENSP00000352154.5:n.30724+1G>A
ENST00000460472.6:c.30349+1G>A (TTN)	ENSP00000434586.1:n.30349+1G>A
ENST00000591111.5:c.52621+1G>A (TTN)	ENSP00000465570.1:n.52621+1G>A
ENST00000615779.4:c.52621+1G>A (TTN)	ENSP00000483597.1:n.52621+1G>A
XM_011511729.1:c.56641+1G>A (TTN)	XP_011510031.1:n.56641+1G>A
XM_011511730.1:c.30535+1G>A (TTN)	XP_011510032.1:n.30535+1G>A
XM_011511731.1:c.30394+1G>A (TTN)	XP_011510033.1:n.30394+1G>A
XM_017004819.1:c.56437+1G>A (TTN)	XP_016860308.1:n.56437+1G>A
XM_017004820.1:c.51835+1G>A (TTN)	XP_016860309.1:n.51835+1G>A
XM_017004821.1:c.51832+1G>A (TTN)	XP_016860310.1:n.51832+1G>A
XM_017004822.1:c.48874+1G>A (TTN)	XP_016860311.1:n.48874+1G>A
XM_017004823.1:c.30490+1G>A (TTN)	XP_016860312.1:n.30490+1G>A
XM_024453094.1:c.51985+1G>A (TTN)	XP_024308862.1:n.51985+1G>A
XM_024453095.1:c.51982+1G>A (TTN)	XP_024308863.1:n.51982+1G>A
XM_024453096.1:c.51415+1G>A (TTN)	XP_024308864.1:n.51415+1G>A
XM_024453097.1:c.48757+1G>A (TTN)	XP_024308865.1:n.48757+1G>A
XM_024453098.1:c.48676+1G>A (TTN)	XP_024308866.1:n.48676+1G>A
XM_024453099.1:c.30439+1G>A (TTN)	XP_024308867.1:n.30439+1G>A
XM_024453100.1:c.20293+1G>A (TTN)	XP_024308868.1:n.20293+1G>A