Canonical Allele Identifier: CA349600997

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178612928C>T , CM000664.2:g.178612928C>T	GRCh38
NC_000002.11:g.179477655C>T , CM000664.1:g.179477655C>T	GRCh37
NC_000002.10:g.179185900C>T	NCBI36
NG_011618.3:g.222875G>A , LRG_391:g.222875G>A
NG_051363.1:g.95102C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.49793G>A (TTN) MANE Select	NP_001254479.2:p.Trp16598Ter
ENST00000589042.5:c.49793G>A (TTN) MANE Select	ENSP00000467141.1:p.Trp16598Ter
NM_001256850.1:c.44870G>A (TTN)	NP_001243779.1:p.Trp14957Ter
NM_003319.4:c.22598G>A (TTN)	NP_003310.4:p.Trp7533Ter
NM_133378.4:c.42089G>A (TTN)	NP_596869.4:p.Trp14030Ter
NM_133432.3:c.22973G>A (TTN)	NP_597676.3:p.Trp7658Ter
NM_133437.4:c.23174G>A (TTN)	NP_597681.4:p.Trp7725Ter
NR_038271.1:n.783-1107C>T (TTN-AS1)
ENST00000342175.10:c.23174G>A (TTN)	ENSP00000340554.6:p.Trp7725Ter
ENST00000342175.11:c.23174G>A (TTN)	ENSP00000340554.6:p.Trp7725Ter
ENST00000342992.10:c.42089G>A (TTN)	ENSP00000343764.6:p.Trp14030Ter
ENST00000342992.11:c.42089G>A (TTN)	ENSP00000343764.6:p.Trp14030Ter
ENST00000359218.10:c.22973G>A (TTN)	ENSP00000352154.5:p.Trp7658Ter
ENST00000359218.9:c.22973G>A (TTN)	ENSP00000352154.5:p.Trp7658Ter
ENST00000460472.6:c.22598G>A (TTN)	ENSP00000434586.1:p.Trp7533Ter
ENST00000591111.5:c.44870G>A (TTN)	ENSP00000465570.1:p.Trp14957Ter
ENST00000615779.4:c.44870G>A (TTN)	ENSP00000483597.1:p.Trp14957Ter
XM_011511729.1:c.48890G>A (TTN)	XP_011510031.1:p.Trp16297Ter
XM_011511730.1:c.22784G>A (TTN)	XP_011510032.1:p.Trp7595Ter
XM_011511731.1:c.22643G>A (TTN)	XP_011510033.1:p.Trp7548Ter
XM_017004819.1:c.48686G>A (TTN)	XP_016860308.1:p.Trp16229Ter
XM_017004820.1:c.44084G>A (TTN)	XP_016860309.1:p.Trp14695Ter
XM_017004821.1:c.44081G>A (TTN)	XP_016860310.1:p.Trp14694Ter
XM_017004822.1:c.41123G>A (TTN)	XP_016860311.1:p.Trp13708Ter
XM_017004823.1:c.22739G>A (TTN)	XP_016860312.1:p.Trp7580Ter
XM_024453094.1:c.44234G>A (TTN)	XP_024308862.1:p.Trp14745Ter
XM_024453095.1:c.44231G>A (TTN)	XP_024308863.1:p.Trp14744Ter
XM_024453096.1:c.43664G>A (TTN)	XP_024308864.1:p.Trp14555Ter
XM_024453097.1:c.41006G>A (TTN)	XP_024308865.1:p.Trp13669Ter
XM_024453098.1:c.40925G>A (TTN)	XP_024308866.1:p.Trp13642Ter
XM_024453099.1:c.22688G>A (TTN)	XP_024308867.1:p.Trp7563Ter
XM_024453100.1:c.12542G>A (TTN)	XP_024308868.1:p.Trp4181Ter