Canonical Allele Identifier: CA349597116

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178612095C>T , CM000664.2:g.178612095C>T	GRCh38
NC_000002.11:g.179476822C>T , CM000664.1:g.179476822C>T	GRCh37
NC_000002.10:g.179185067C>T	NCBI36
NG_011618.3:g.223708G>A , LRG_391:g.223708G>A
NG_051363.1:g.94269C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.50316G>A (TTN) MANE Select	NP_001254479.2:p.Trp16772Ter
ENST00000589042.5:c.50316G>A (TTN) MANE Select	ENSP00000467141.1:p.Trp16772Ter
NM_001256850.1:c.45393G>A (TTN)	NP_001243779.1:p.Trp15131Ter
NM_003319.4:c.23121G>A (TTN)	NP_003310.4:p.Trp7707Ter
NM_133378.4:c.42612G>A (TTN)	NP_596869.4:p.Trp14204Ter
NM_133432.3:c.23496G>A (TTN)	NP_597676.3:p.Trp7832Ter
NM_133437.4:c.23697G>A (TTN)	NP_597681.4:p.Trp7899Ter
NR_038271.1:n.783-1940C>T (TTN-AS1)
ENST00000342175.10:c.23697G>A (TTN)	ENSP00000340554.6:p.Trp7899Ter
ENST00000342175.11:c.23697G>A (TTN)	ENSP00000340554.6:p.Trp7899Ter
ENST00000342992.10:c.42612G>A (TTN)	ENSP00000343764.6:p.Trp14204Ter
ENST00000342992.11:c.42612G>A (TTN)	ENSP00000343764.6:p.Trp14204Ter
ENST00000359218.10:c.23496G>A (TTN)	ENSP00000352154.5:p.Trp7832Ter
ENST00000359218.9:c.23496G>A (TTN)	ENSP00000352154.5:p.Trp7832Ter
ENST00000460472.6:c.23121G>A (TTN)	ENSP00000434586.1:p.Trp7707Ter
ENST00000591111.5:c.45393G>A (TTN)	ENSP00000465570.1:p.Trp15131Ter
ENST00000615779.4:c.45393G>A (TTN)	ENSP00000483597.1:p.Trp15131Ter
XM_011511729.1:c.49413G>A (TTN)	XP_011510031.1:p.Trp16471Ter
XM_011511730.1:c.23307G>A (TTN)	XP_011510032.1:p.Trp7769Ter
XM_011511731.1:c.23166G>A (TTN)	XP_011510033.1:p.Trp7722Ter
XM_017004819.1:c.49209G>A (TTN)	XP_016860308.1:p.Trp16403Ter
XM_017004820.1:c.44607G>A (TTN)	XP_016860309.1:p.Trp14869Ter
XM_017004821.1:c.44604G>A (TTN)	XP_016860310.1:p.Trp14868Ter
XM_017004822.1:c.41646G>A (TTN)	XP_016860311.1:p.Trp13882Ter
XM_017004823.1:c.23262G>A (TTN)	XP_016860312.1:p.Trp7754Ter
XM_024453094.1:c.44757G>A (TTN)	XP_024308862.1:p.Trp14919Ter
XM_024453095.1:c.44754G>A (TTN)	XP_024308863.1:p.Trp14918Ter
XM_024453096.1:c.44187G>A (TTN)	XP_024308864.1:p.Trp14729Ter
XM_024453097.1:c.41529G>A (TTN)	XP_024308865.1:p.Trp13843Ter
XM_024453098.1:c.41448G>A (TTN)	XP_024308866.1:p.Trp13816Ter
XM_024453099.1:c.23211G>A (TTN)	XP_024308867.1:p.Trp7737Ter
XM_024453100.1:c.13065G>A (TTN)	XP_024308868.1:p.Trp4355Ter