Canonical Allele Identifier: CA60996378

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178570990A>G , CM000664.2:g.178570990A>G	GRCh38
NC_000002.11:g.179435717A>G , CM000664.1:g.179435717A>G	GRCh37
NC_000002.10:g.179143963A>G	NCBI36
NG_011618.3:g.264813T>C , LRG_391:g.264813T>C
NG_051363.1:g.53164A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.75142T>C (TTN) MANE Select	NP_001254479.2:p.Leu25048=
ENST00000589042.5:c.75142T>C (TTN) MANE Select	ENSP00000467141.1:p.Leu25048=
NM_001256850.1:c.70219T>C (TTN)	NP_001243779.1:p.Leu23407=
NM_003319.4:c.47947T>C (TTN)	NP_003310.4:p.Leu15983=
NM_133378.4:c.67438T>C (TTN)	NP_596869.4:p.Leu22480=
NM_133432.3:c.48322T>C (TTN)	NP_597676.3:p.Leu16108=
NM_133437.4:c.48523T>C (TTN)	NP_597681.4:p.Leu16175=
NR_038271.1:n.447-310A>G (TTN-AS1)
NR_038272.1:n.2044-11582A>G (TTN-AS1)
ENST00000342175.10:c.48523T>C (TTN)	ENSP00000340554.6:p.Leu16175=
ENST00000342175.11:c.48523T>C (TTN)	ENSP00000340554.6:p.Leu16175=
ENST00000342992.10:c.67438T>C (TTN)	ENSP00000343764.6:p.Leu22480=
ENST00000342992.11:c.67438T>C (TTN)	ENSP00000343764.6:p.Leu22480=
ENST00000359218.10:c.48322T>C (TTN)	ENSP00000352154.5:p.Leu16108=
ENST00000359218.9:c.48322T>C (TTN)	ENSP00000352154.5:p.Leu16108=
ENST00000460472.6:c.47947T>C (TTN)	ENSP00000434586.1:p.Leu15983=
ENST00000591111.5:c.70219T>C (TTN)	ENSP00000465570.1:p.Leu23407=
ENST00000615779.4:c.70219T>C (TTN)	ENSP00000483597.1:p.Leu23407=
XM_011511729.1:c.74239T>C (TTN)	XP_011510031.1:p.Leu24747=
XM_011511730.1:c.48133T>C (TTN)	XP_011510032.1:p.Leu16045=
XM_011511731.1:c.47992T>C (TTN)	XP_011510033.1:p.Leu15998=
XM_017004819.1:c.74035T>C (TTN)	XP_016860308.1:p.Leu24679=
XM_017004820.1:c.69433T>C (TTN)	XP_016860309.1:p.Leu23145=
XM_017004821.1:c.69430T>C (TTN)	XP_016860310.1:p.Leu23144=
XM_017004822.1:c.66472T>C (TTN)	XP_016860311.1:p.Leu22158=
XM_017004823.1:c.48088T>C (TTN)	XP_016860312.1:p.Leu16030=
XM_024453094.1:c.69583T>C (TTN)	XP_024308862.1:p.Leu23195=
XM_024453095.1:c.69580T>C (TTN)	XP_024308863.1:p.Leu23194=
XM_024453096.1:c.69013T>C (TTN)	XP_024308864.1:p.Leu23005=
XM_024453097.1:c.66355T>C (TTN)	XP_024308865.1:p.Leu22119=
XM_024453098.1:c.66274T>C (TTN)	XP_024308866.1:p.Leu22092=
XM_024453099.1:c.48037T>C (TTN)	XP_024308867.1:p.Leu16013=
XM_024453100.1:c.37891T>C (TTN)	XP_024308868.1:p.Leu12631=