Canonical Allele Identifier: CA349645190

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178573293A>C , CM000664.2:g.178573293A>C	GRCh38
NC_000002.11:g.179438020A>C , CM000664.1:g.179438020A>C	GRCh37
NC_000002.10:g.179146266A>C	NCBI36
NG_011618.3:g.262510T>G , LRG_391:g.262510T>G
NG_051363.1:g.55467A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.72839T>G (TTN) MANE Select	NP_001254479.2:p.Leu24280Ter
ENST00000589042.5:c.72839T>G (TTN) MANE Select	ENSP00000467141.1:p.Leu24280Ter
NM_001256850.1:c.67916T>G (TTN)	NP_001243779.1:p.Leu22639Ter
NM_003319.4:c.45644T>G (TTN)	NP_003310.4:p.Leu15215Ter
NM_133378.4:c.65135T>G (TTN)	NP_596869.4:p.Leu21712Ter
NM_133432.3:c.46019T>G (TTN)	NP_597676.3:p.Leu15340Ter
NM_133437.4:c.46220T>G (TTN)	NP_597681.4:p.Leu15407Ter
NR_038271.1:n.596+1844A>C (TTN-AS1)
NR_038272.1:n.2044-9279A>C (TTN-AS1)
ENST00000342175.10:c.46220T>G (TTN)	ENSP00000340554.6:p.Leu15407Ter
ENST00000342175.11:c.46220T>G (TTN)	ENSP00000340554.6:p.Leu15407Ter
ENST00000342992.10:c.65135T>G (TTN)	ENSP00000343764.6:p.Leu21712Ter
ENST00000342992.11:c.65135T>G (TTN)	ENSP00000343764.6:p.Leu21712Ter
ENST00000359218.10:c.46019T>G (TTN)	ENSP00000352154.5:p.Leu15340Ter
ENST00000359218.9:c.46019T>G (TTN)	ENSP00000352154.5:p.Leu15340Ter
ENST00000460472.6:c.45644T>G (TTN)	ENSP00000434586.1:p.Leu15215Ter
ENST00000591111.5:c.67916T>G (TTN)	ENSP00000465570.1:p.Leu22639Ter
ENST00000615779.4:c.67916T>G (TTN)	ENSP00000483597.1:p.Leu22639Ter
XM_011511729.1:c.71936T>G (TTN)	XP_011510031.1:p.Leu23979Ter
XM_011511730.1:c.45830T>G (TTN)	XP_011510032.1:p.Leu15277Ter
XM_011511731.1:c.45689T>G (TTN)	XP_011510033.1:p.Leu15230Ter
XM_017004819.1:c.71732T>G (TTN)	XP_016860308.1:p.Leu23911Ter
XM_017004820.1:c.67130T>G (TTN)	XP_016860309.1:p.Leu22377Ter
XM_017004821.1:c.67127T>G (TTN)	XP_016860310.1:p.Leu22376Ter
XM_017004822.1:c.64169T>G (TTN)	XP_016860311.1:p.Leu21390Ter
XM_017004823.1:c.45785T>G (TTN)	XP_016860312.1:p.Leu15262Ter
XM_024453094.1:c.67280T>G (TTN)	XP_024308862.1:p.Leu22427Ter
XM_024453095.1:c.67277T>G (TTN)	XP_024308863.1:p.Leu22426Ter
XM_024453096.1:c.66710T>G (TTN)	XP_024308864.1:p.Leu22237Ter
XM_024453097.1:c.64052T>G (TTN)	XP_024308865.1:p.Leu21351Ter
XM_024453098.1:c.63971T>G (TTN)	XP_024308866.1:p.Leu21324Ter
XM_024453099.1:c.45734T>G (TTN)	XP_024308867.1:p.Leu15245Ter
XM_024453100.1:c.35588T>G (TTN)	XP_024308868.1:p.Leu11863Ter