Canonical Allele Identifier: CA310301

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178584458C>A , CM000664.2:g.178584458C>A	GRCh38
NC_000002.11:g.179449185C>A , CM000664.1:g.179449185C>A	GRCh37
NC_000002.10:g.179157431C>A	NCBI36
NG_011618.3:g.251345G>T , LRG_391:g.251345G>T
NG_051363.1:g.66632C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.65093G>T (TTN) MANE Select	NP_001254479.2:p.Arg21698Leu
ENST00000589042.5:c.65093G>T (TTN) MANE Select	ENSP00000467141.1:p.Arg21698Leu
NM_001256850.1:c.60170G>T (TTN)	NP_001243779.1:p.Arg20057Leu
NM_003319.4:c.37898G>T (TTN)	NP_003310.4:p.Arg12633Leu
NM_133378.4:c.57389G>T (TTN)	NP_596869.4:p.Arg19130Leu
NM_133432.3:c.38273G>T (TTN)	NP_597676.3:p.Arg12758Leu
NM_133437.4:c.38474G>T (TTN)	NP_597681.4:p.Arg12825Leu
NR_038271.1:n.596+13009C>A (TTN-AS1)
NR_038272.1:n.2768-115C>A (TTN-AS1)
ENST00000342175.10:c.38474G>T (TTN)	ENSP00000340554.6:p.Arg12825Leu
ENST00000342175.11:c.38474G>T (TTN)	ENSP00000340554.6:p.Arg12825Leu
ENST00000342992.10:c.57389G>T (TTN)	ENSP00000343764.6:p.Arg19130Leu
ENST00000342992.11:c.57389G>T (TTN)	ENSP00000343764.6:p.Arg19130Leu
ENST00000359218.10:c.38273G>T (TTN)	ENSP00000352154.5:p.Arg12758Leu
ENST00000359218.9:c.38273G>T (TTN)	ENSP00000352154.5:p.Arg12758Leu
ENST00000460472.6:c.37898G>T (TTN)	ENSP00000434586.1:p.Arg12633Leu
ENST00000591111.5:c.60170G>T (TTN)	ENSP00000465570.1:p.Arg20057Leu
ENST00000615779.4:c.60170G>T (TTN)	ENSP00000483597.1:p.Arg20057Leu
XM_011511729.1:c.64190G>T (TTN)	XP_011510031.1:p.Arg21397Leu
XM_011511730.1:c.38084G>T (TTN)	XP_011510032.1:p.Arg12695Leu
XM_011511731.1:c.37943G>T (TTN)	XP_011510033.1:p.Arg12648Leu
XM_017004819.1:c.63986G>T (TTN)	XP_016860308.1:p.Arg21329Leu
XM_017004820.1:c.59384G>T (TTN)	XP_016860309.1:p.Arg19795Leu
XM_017004821.1:c.59381G>T (TTN)	XP_016860310.1:p.Arg19794Leu
XM_017004822.1:c.56423G>T (TTN)	XP_016860311.1:p.Arg18808Leu
XM_017004823.1:c.38039G>T (TTN)	XP_016860312.1:p.Arg12680Leu
XM_024453094.1:c.59534G>T (TTN)	XP_024308862.1:p.Arg19845Leu
XM_024453095.1:c.59531G>T (TTN)	XP_024308863.1:p.Arg19844Leu
XM_024453096.1:c.58964G>T (TTN)	XP_024308864.1:p.Arg19655Leu
XM_024453097.1:c.56306G>T (TTN)	XP_024308865.1:p.Arg18769Leu
XM_024453098.1:c.56225G>T (TTN)	XP_024308866.1:p.Arg18742Leu
XM_024453099.1:c.37988G>T (TTN)	XP_024308867.1:p.Arg12663Leu
XM_024453100.1:c.27842G>T (TTN)	XP_024308868.1:p.Arg9281Leu