Canonical Allele Identifier: CA349638047

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178572512C>T , CM000664.2:g.178572512C>T	GRCh38
NC_000002.11:g.179437239C>T , CM000664.1:g.179437239C>T	GRCh37
NC_000002.10:g.179145485C>T	NCBI36
NG_011618.3:g.263291G>A , LRG_391:g.263291G>A
NG_051363.1:g.54686C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.73620G>A (TTN) MANE Select	NP_001254479.2:p.Trp24540Ter
ENST00000589042.5:c.73620G>A (TTN) MANE Select	ENSP00000467141.1:p.Trp24540Ter
NM_001256850.1:c.68697G>A (TTN)	NP_001243779.1:p.Trp22899Ter
NM_003319.4:c.46425G>A (TTN)	NP_003310.4:p.Trp15475Ter
NM_133378.4:c.65916G>A (TTN)	NP_596869.4:p.Trp21972Ter
NM_133432.3:c.46800G>A (TTN)	NP_597676.3:p.Trp15600Ter
NM_133437.4:c.47001G>A (TTN)	NP_597681.4:p.Trp15667Ter
NR_038271.1:n.596+1063C>T (TTN-AS1)
NR_038272.1:n.2044-10060C>T (TTN-AS1)
ENST00000342175.10:c.47001G>A (TTN)	ENSP00000340554.6:p.Trp15667Ter
ENST00000342175.11:c.47001G>A (TTN)	ENSP00000340554.6:p.Trp15667Ter
ENST00000342992.10:c.65916G>A (TTN)	ENSP00000343764.6:p.Trp21972Ter
ENST00000342992.11:c.65916G>A (TTN)	ENSP00000343764.6:p.Trp21972Ter
ENST00000359218.10:c.46800G>A (TTN)	ENSP00000352154.5:p.Trp15600Ter
ENST00000359218.9:c.46800G>A (TTN)	ENSP00000352154.5:p.Trp15600Ter
ENST00000460472.6:c.46425G>A (TTN)	ENSP00000434586.1:p.Trp15475Ter
ENST00000591111.5:c.68697G>A (TTN)	ENSP00000465570.1:p.Trp22899Ter
ENST00000615779.4:c.68697G>A (TTN)	ENSP00000483597.1:p.Trp22899Ter
XM_011511729.1:c.72717G>A (TTN)	XP_011510031.1:p.Trp24239Ter
XM_011511730.1:c.46611G>A (TTN)	XP_011510032.1:p.Trp15537Ter
XM_011511731.1:c.46470G>A (TTN)	XP_011510033.1:p.Trp15490Ter
XM_017004819.1:c.72513G>A (TTN)	XP_016860308.1:p.Trp24171Ter
XM_017004820.1:c.67911G>A (TTN)	XP_016860309.1:p.Trp22637Ter
XM_017004821.1:c.67908G>A (TTN)	XP_016860310.1:p.Trp22636Ter
XM_017004822.1:c.64950G>A (TTN)	XP_016860311.1:p.Trp21650Ter
XM_017004823.1:c.46566G>A (TTN)	XP_016860312.1:p.Trp15522Ter
XM_024453094.1:c.68061G>A (TTN)	XP_024308862.1:p.Trp22687Ter
XM_024453095.1:c.68058G>A (TTN)	XP_024308863.1:p.Trp22686Ter
XM_024453096.1:c.67491G>A (TTN)	XP_024308864.1:p.Trp22497Ter
XM_024453097.1:c.64833G>A (TTN)	XP_024308865.1:p.Trp21611Ter
XM_024453098.1:c.64752G>A (TTN)	XP_024308866.1:p.Trp21584Ter
XM_024453099.1:c.46515G>A (TTN)	XP_024308867.1:p.Trp15505Ter
XM_024453100.1:c.36369G>A (TTN)	XP_024308868.1:p.Trp12123Ter