Canonical Allele Identifier: CA1993391

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178601166G>A , CM000664.2:g.178601166G>A	GRCh38
NC_000002.11:g.179465893G>A , CM000664.1:g.179465893G>A	GRCh37
NC_000002.10:g.179174138G>A	NCBI36
NG_011618.3:g.234637C>T , LRG_391:g.234637C>T
NG_051363.1:g.83340G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.55738C>T (TTN) MANE Select	NP_001254479.2:p.Pro18580Ser
ENST00000589042.5:c.55738C>T (TTN) MANE Select	ENSP00000467141.1:p.Pro18580Ser
NM_001256850.1:c.50815C>T (TTN)	NP_001243779.1:p.Pro16939Ser
NM_003319.4:c.28543C>T (TTN)	NP_003310.4:p.Pro9515Ser
NM_133378.4:c.48034C>T (TTN)	NP_596869.4:p.Pro16012Ser
NM_133432.3:c.28918C>T (TTN)	NP_597676.3:p.Pro9640Ser
NM_133437.4:c.29119C>T (TTN)	NP_597681.4:p.Pro9707Ser
NR_038271.1:n.682+3485G>A (TTN-AS1)
NR_038272.1:n.3917+499G>A (TTN-AS1)
ENST00000342175.10:c.29119C>T (TTN)	ENSP00000340554.6:p.Pro9707Ser
ENST00000342175.11:c.29119C>T (TTN)	ENSP00000340554.6:p.Pro9707Ser
ENST00000342992.10:c.48034C>T (TTN)	ENSP00000343764.6:p.Pro16012Ser
ENST00000342992.11:c.48034C>T (TTN)	ENSP00000343764.6:p.Pro16012Ser
ENST00000359218.10:c.28918C>T (TTN)	ENSP00000352154.5:p.Pro9640Ser
ENST00000359218.9:c.28918C>T (TTN)	ENSP00000352154.5:p.Pro9640Ser
ENST00000460472.6:c.28543C>T (TTN)	ENSP00000434586.1:p.Pro9515Ser
ENST00000591111.5:c.50815C>T (TTN)	ENSP00000465570.1:p.Pro16939Ser
ENST00000615779.4:c.50815C>T (TTN)	ENSP00000483597.1:p.Pro16939Ser
XM_011511729.1:c.54835C>T (TTN)	XP_011510031.1:p.Pro18279Ser
XM_011511730.1:c.28729C>T (TTN)	XP_011510032.1:p.Pro9577Ser
XM_011511731.1:c.28588C>T (TTN)	XP_011510033.1:p.Pro9530Ser
XM_017004819.1:c.54631C>T (TTN)	XP_016860308.1:p.Pro18211Ser
XM_017004820.1:c.50029C>T (TTN)	XP_016860309.1:p.Pro16677Ser
XM_017004821.1:c.50026C>T (TTN)	XP_016860310.1:p.Pro16676Ser
XM_017004822.1:c.47068C>T (TTN)	XP_016860311.1:p.Pro15690Ser
XM_017004823.1:c.28684C>T (TTN)	XP_016860312.1:p.Pro9562Ser
XM_024453094.1:c.50179C>T (TTN)	XP_024308862.1:p.Pro16727Ser
XM_024453095.1:c.50176C>T (TTN)	XP_024308863.1:p.Pro16726Ser
XM_024453096.1:c.49609C>T (TTN)	XP_024308864.1:p.Pro16537Ser
XM_024453097.1:c.46951C>T (TTN)	XP_024308865.1:p.Pro15651Ser
XM_024453098.1:c.46870C>T (TTN)	XP_024308866.1:p.Pro15624Ser
XM_024453099.1:c.28633C>T (TTN)	XP_024308867.1:p.Pro9545Ser
XM_024453100.1:c.18487C>T (TTN)	XP_024308868.1:p.Pro6163Ser