Canonical Allele Identifier: CA1993547

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178602392G>A , CM000664.2:g.178602392G>A	GRCh38
NC_000002.11:g.179467119G>A , CM000664.1:g.179467119G>A	GRCh37
NC_000002.10:g.179175364G>A	NCBI36
NG_011618.3:g.233411C>T , LRG_391:g.233411C>T
NG_051363.1:g.84566G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.55010C>T (TTN) MANE Select	NP_001254479.2:p.Pro18337Leu
ENST00000589042.5:c.55010C>T (TTN) MANE Select	ENSP00000467141.1:p.Pro18337Leu
NM_001256850.1:c.50087C>T (TTN)	NP_001243779.1:p.Pro16696Leu
NM_003319.4:c.27815C>T (TTN)	NP_003310.4:p.Pro9272Leu
NM_133378.4:c.47306C>T (TTN)	NP_596869.4:p.Pro15769Leu
NM_133432.3:c.28190C>T (TTN)	NP_597676.3:p.Pro9397Leu
NM_133437.4:c.28391C>T (TTN)	NP_597681.4:p.Pro9464Leu
NR_038271.1:n.682+4711G>A (TTN-AS1)
NR_038272.1:n.3917+1725G>A (TTN-AS1)
ENST00000342175.10:c.28391C>T (TTN)	ENSP00000340554.6:p.Pro9464Leu
ENST00000342175.11:c.28391C>T (TTN)	ENSP00000340554.6:p.Pro9464Leu
ENST00000342992.10:c.47306C>T (TTN)	ENSP00000343764.6:p.Pro15769Leu
ENST00000342992.11:c.47306C>T (TTN)	ENSP00000343764.6:p.Pro15769Leu
ENST00000359218.10:c.28190C>T (TTN)	ENSP00000352154.5:p.Pro9397Leu
ENST00000359218.9:c.28190C>T (TTN)	ENSP00000352154.5:p.Pro9397Leu
ENST00000460472.6:c.27815C>T (TTN)	ENSP00000434586.1:p.Pro9272Leu
ENST00000591111.5:c.50087C>T (TTN)	ENSP00000465570.1:p.Pro16696Leu
ENST00000615779.4:c.50087C>T (TTN)	ENSP00000483597.1:p.Pro16696Leu
XM_011511729.1:c.54107C>T (TTN)	XP_011510031.1:p.Pro18036Leu
XM_011511730.1:c.28001C>T (TTN)	XP_011510032.1:p.Pro9334Leu
XM_011511731.1:c.27860C>T (TTN)	XP_011510033.1:p.Pro9287Leu
XM_017004819.1:c.53903C>T (TTN)	XP_016860308.1:p.Pro17968Leu
XM_017004820.1:c.49301C>T (TTN)	XP_016860309.1:p.Pro16434Leu
XM_017004821.1:c.49298C>T (TTN)	XP_016860310.1:p.Pro16433Leu
XM_017004822.1:c.46340C>T (TTN)	XP_016860311.1:p.Pro15447Leu
XM_017004823.1:c.27956C>T (TTN)	XP_016860312.1:p.Pro9319Leu
XM_024453094.1:c.49451C>T (TTN)	XP_024308862.1:p.Pro16484Leu
XM_024453095.1:c.49448C>T (TTN)	XP_024308863.1:p.Pro16483Leu
XM_024453096.1:c.48881C>T (TTN)	XP_024308864.1:p.Pro16294Leu
XM_024453097.1:c.46223C>T (TTN)	XP_024308865.1:p.Pro15408Leu
XM_024453098.1:c.46142C>T (TTN)	XP_024308866.1:p.Pro15381Leu
XM_024453099.1:c.27905C>T (TTN)	XP_024308867.1:p.Pro9302Leu
XM_024453100.1:c.17759C>T (TTN)	XP_024308868.1:p.Pro5920Leu