Canonical Allele Identifier: CA349666112

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178576271C>T , CM000664.2:g.178576271C>T	GRCh38
NC_000002.11:g.179440998C>T , CM000664.1:g.179440998C>T	GRCh37
NC_000002.10:g.179149244C>T	NCBI36
NG_011618.3:g.259532G>A , LRG_391:g.259532G>A
NG_051363.1:g.58445C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.69861G>A (TTN) MANE Select	NP_001254479.2:p.Trp23287Ter
ENST00000589042.5:c.69861G>A (TTN) MANE Select	ENSP00000467141.1:p.Trp23287Ter
NM_001256850.1:c.64938G>A (TTN)	NP_001243779.1:p.Trp21646Ter
NM_003319.4:c.42666G>A (TTN)	NP_003310.4:p.Trp14222Ter
NM_133378.4:c.62157G>A (TTN)	NP_596869.4:p.Trp20719Ter
NM_133432.3:c.43041G>A (TTN)	NP_597676.3:p.Trp14347Ter
NM_133437.4:c.43242G>A (TTN)	NP_597681.4:p.Trp14414Ter
NR_038271.1:n.596+4822C>T (TTN-AS1)
NR_038272.1:n.2044-6301C>T (TTN-AS1)
ENST00000342175.10:c.43242G>A (TTN)	ENSP00000340554.6:p.Trp14414Ter
ENST00000342175.11:c.43242G>A (TTN)	ENSP00000340554.6:p.Trp14414Ter
ENST00000342992.10:c.62157G>A (TTN)	ENSP00000343764.6:p.Trp20719Ter
ENST00000342992.11:c.62157G>A (TTN)	ENSP00000343764.6:p.Trp20719Ter
ENST00000359218.10:c.43041G>A (TTN)	ENSP00000352154.5:p.Trp14347Ter
ENST00000359218.9:c.43041G>A (TTN)	ENSP00000352154.5:p.Trp14347Ter
ENST00000460472.6:c.42666G>A (TTN)	ENSP00000434586.1:p.Trp14222Ter
ENST00000591111.5:c.64938G>A (TTN)	ENSP00000465570.1:p.Trp21646Ter
ENST00000615779.4:c.64938G>A (TTN)	ENSP00000483597.1:p.Trp21646Ter
XM_011511729.1:c.68958G>A (TTN)	XP_011510031.1:p.Trp22986Ter
XM_011511730.1:c.42852G>A (TTN)	XP_011510032.1:p.Trp14284Ter
XM_011511731.1:c.42711G>A (TTN)	XP_011510033.1:p.Trp14237Ter
XM_017004819.1:c.68754G>A (TTN)	XP_016860308.1:p.Trp22918Ter
XM_017004820.1:c.64152G>A (TTN)	XP_016860309.1:p.Trp21384Ter
XM_017004821.1:c.64149G>A (TTN)	XP_016860310.1:p.Trp21383Ter
XM_017004822.1:c.61191G>A (TTN)	XP_016860311.1:p.Trp20397Ter
XM_017004823.1:c.42807G>A (TTN)	XP_016860312.1:p.Trp14269Ter
XM_024453094.1:c.64302G>A (TTN)	XP_024308862.1:p.Trp21434Ter
XM_024453095.1:c.64299G>A (TTN)	XP_024308863.1:p.Trp21433Ter
XM_024453096.1:c.63732G>A (TTN)	XP_024308864.1:p.Trp21244Ter
XM_024453097.1:c.61074G>A (TTN)	XP_024308865.1:p.Trp20358Ter
XM_024453098.1:c.60993G>A (TTN)	XP_024308866.1:p.Trp20331Ter
XM_024453099.1:c.42756G>A (TTN)	XP_024308867.1:p.Trp14252Ter
XM_024453100.1:c.32610G>A (TTN)	XP_024308868.1:p.Trp10870Ter