Canonical Allele Identifier: CA1990363

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178572641A>G , CM000664.2:g.178572641A>G	GRCh38
NC_000002.11:g.179437368A>G , CM000664.1:g.179437368A>G	GRCh37
NC_000002.10:g.179145614A>G	NCBI36
NG_011618.3:g.263162T>C , LRG_391:g.263162T>C
NG_051363.1:g.54815A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.73491T>C (TTN) MANE Select	NP_001254479.2:p.Tyr24497=
ENST00000589042.5:c.73491T>C (TTN) MANE Select	ENSP00000467141.1:p.Tyr24497=
NM_001256850.1:c.68568T>C (TTN)	NP_001243779.1:p.Tyr22856=
NM_003319.4:c.46296T>C (TTN)	NP_003310.4:p.Tyr15432=
NM_133378.4:c.65787T>C (TTN)	NP_596869.4:p.Tyr21929=
NM_133432.3:c.46671T>C (TTN)	NP_597676.3:p.Tyr15557=
NM_133437.4:c.46872T>C (TTN)	NP_597681.4:p.Tyr15624=
NR_038271.1:n.596+1192A>G (TTN-AS1)
NR_038272.1:n.2044-9931A>G (TTN-AS1)
ENST00000342175.10:c.46872T>C (TTN)	ENSP00000340554.6:p.Tyr15624=
ENST00000342175.11:c.46872T>C (TTN)	ENSP00000340554.6:p.Tyr15624=
ENST00000342992.10:c.65787T>C (TTN)	ENSP00000343764.6:p.Tyr21929=
ENST00000342992.11:c.65787T>C (TTN)	ENSP00000343764.6:p.Tyr21929=
ENST00000359218.10:c.46671T>C (TTN)	ENSP00000352154.5:p.Tyr15557=
ENST00000359218.9:c.46671T>C (TTN)	ENSP00000352154.5:p.Tyr15557=
ENST00000460472.6:c.46296T>C (TTN)	ENSP00000434586.1:p.Tyr15432=
ENST00000591111.5:c.68568T>C (TTN)	ENSP00000465570.1:p.Tyr22856=
ENST00000615779.4:c.68568T>C (TTN)	ENSP00000483597.1:p.Tyr22856=
XM_011511729.1:c.72588T>C (TTN)	XP_011510031.1:p.Tyr24196=
XM_011511730.1:c.46482T>C (TTN)	XP_011510032.1:p.Tyr15494=
XM_011511731.1:c.46341T>C (TTN)	XP_011510033.1:p.Tyr15447=
XM_017004819.1:c.72384T>C (TTN)	XP_016860308.1:p.Tyr24128=
XM_017004820.1:c.67782T>C (TTN)	XP_016860309.1:p.Tyr22594=
XM_017004821.1:c.67779T>C (TTN)	XP_016860310.1:p.Tyr22593=
XM_017004822.1:c.64821T>C (TTN)	XP_016860311.1:p.Tyr21607=
XM_017004823.1:c.46437T>C (TTN)	XP_016860312.1:p.Tyr15479=
XM_024453094.1:c.67932T>C (TTN)	XP_024308862.1:p.Tyr22644=
XM_024453095.1:c.67929T>C (TTN)	XP_024308863.1:p.Tyr22643=
XM_024453096.1:c.67362T>C (TTN)	XP_024308864.1:p.Tyr22454=
XM_024453097.1:c.64704T>C (TTN)	XP_024308865.1:p.Tyr21568=
XM_024453098.1:c.64623T>C (TTN)	XP_024308866.1:p.Tyr21541=
XM_024453099.1:c.46386T>C (TTN)	XP_024308867.1:p.Tyr15462=
XM_024453100.1:c.36240T>C (TTN)	XP_024308868.1:p.Tyr12080=