Canonical Allele Identifier: CA140566

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178575951G>A , CM000664.2:g.178575951G>A	GRCh38
NC_000002.11:g.179440678G>A , CM000664.1:g.179440678G>A	GRCh37
NC_000002.10:g.179148924G>A	NCBI36
NG_011618.3:g.259852C>T , LRG_391:g.259852C>T
NG_051363.1:g.58125G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.70181C>T (TTN) MANE Select	NP_001254479.2:p.Thr23394Met
ENST00000589042.5:c.70181C>T (TTN) MANE Select	ENSP00000467141.1:p.Thr23394Met
NM_001256850.1:c.65258C>T (TTN)	NP_001243779.1:p.Thr21753Met
NM_003319.4:c.42986C>T (TTN)	NP_003310.4:p.Thr14329Met
NM_133378.4:c.62477C>T (TTN)	NP_596869.4:p.Thr20826Met
NM_133432.3:c.43361C>T (TTN)	NP_597676.3:p.Thr14454Met
NM_133437.4:c.43562C>T (TTN)	NP_597681.4:p.Thr14521Met
NR_038271.1:n.596+4502G>A (TTN-AS1)
NR_038272.1:n.2044-6621G>A (TTN-AS1)
ENST00000342175.10:c.43562C>T (TTN)	ENSP00000340554.6:p.Thr14521Met
ENST00000342175.11:c.43562C>T (TTN)	ENSP00000340554.6:p.Thr14521Met
ENST00000342992.10:c.62477C>T (TTN)	ENSP00000343764.6:p.Thr20826Met
ENST00000342992.11:c.62477C>T (TTN)	ENSP00000343764.6:p.Thr20826Met
ENST00000359218.10:c.43361C>T (TTN)	ENSP00000352154.5:p.Thr14454Met
ENST00000359218.9:c.43361C>T (TTN)	ENSP00000352154.5:p.Thr14454Met
ENST00000460472.6:c.42986C>T (TTN)	ENSP00000434586.1:p.Thr14329Met
ENST00000591111.5:c.65258C>T (TTN)	ENSP00000465570.1:p.Thr21753Met
ENST00000615779.4:c.65258C>T (TTN)	ENSP00000483597.1:p.Thr21753Met
XM_011511729.1:c.69278C>T (TTN)	XP_011510031.1:p.Thr23093Met
XM_011511730.1:c.43172C>T (TTN)	XP_011510032.1:p.Thr14391Met
XM_011511731.1:c.43031C>T (TTN)	XP_011510033.1:p.Thr14344Met
XM_017004819.1:c.69074C>T (TTN)	XP_016860308.1:p.Thr23025Met
XM_017004820.1:c.64472C>T (TTN)	XP_016860309.1:p.Thr21491Met
XM_017004821.1:c.64469C>T (TTN)	XP_016860310.1:p.Thr21490Met
XM_017004822.1:c.61511C>T (TTN)	XP_016860311.1:p.Thr20504Met
XM_017004823.1:c.43127C>T (TTN)	XP_016860312.1:p.Thr14376Met
XM_024453094.1:c.64622C>T (TTN)	XP_024308862.1:p.Thr21541Met
XM_024453095.1:c.64619C>T (TTN)	XP_024308863.1:p.Thr21540Met
XM_024453096.1:c.64052C>T (TTN)	XP_024308864.1:p.Thr21351Met
XM_024453097.1:c.61394C>T (TTN)	XP_024308865.1:p.Thr20465Met
XM_024453098.1:c.61313C>T (TTN)	XP_024308866.1:p.Thr20438Met
XM_024453099.1:c.43076C>T (TTN)	XP_024308867.1:p.Thr14359Met
XM_024453100.1:c.32930C>T (TTN)	XP_024308868.1:p.Thr10977Met