Canonical Allele Identifier: CA349492972

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178549107A>C , CM000664.2:g.178549107A>C	GRCh38
NC_000002.11:g.179413834A>C , CM000664.1:g.179413834A>C	GRCh37
NC_000002.10:g.179122080A>C	NCBI36
NG_011618.3:g.286696T>G , LRG_391:g.286696T>G
NG_051363.1:g.31281A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.92519T>G (TTN) MANE Select	NP_001254479.2:p.Leu30840Ter
ENST00000589042.5:c.92519T>G (TTN) MANE Select	ENSP00000467141.1:p.Leu30840Ter
NM_001256850.1:c.87596T>G (TTN)	NP_001243779.1:p.Leu29199Ter
NM_003319.4:c.65324T>G (TTN)	NP_003310.4:p.Leu21775Ter
NM_133378.4:c.84815T>G (TTN)	NP_596869.4:p.Leu28272Ter
NM_133432.3:c.65699T>G (TTN)	NP_597676.3:p.Leu21900Ter
NM_133437.4:c.65900T>G (TTN)	NP_597681.4:p.Leu21967Ter
NR_038271.1:n.447-22193A>C (TTN-AS1)
NR_038272.1:n.2043+6746A>C (TTN-AS1)
ENST00000342175.10:c.65900T>G (TTN)	ENSP00000340554.6:p.Leu21967Ter
ENST00000342175.11:c.65900T>G (TTN)	ENSP00000340554.6:p.Leu21967Ter
ENST00000342992.10:c.84815T>G (TTN)	ENSP00000343764.6:p.Leu28272Ter
ENST00000342992.11:c.84815T>G (TTN)	ENSP00000343764.6:p.Leu28272Ter
ENST00000359218.10:c.65699T>G (TTN)	ENSP00000352154.5:p.Leu21900Ter
ENST00000359218.9:c.65699T>G (TTN)	ENSP00000352154.5:p.Leu21900Ter
ENST00000460472.6:c.65324T>G (TTN)	ENSP00000434586.1:p.Leu21775Ter
ENST00000591111.5:c.87596T>G (TTN)	ENSP00000465570.1:p.Leu29199Ter
ENST00000615779.4:c.87596T>G (TTN)	ENSP00000483597.1:p.Leu29199Ter
XM_011511729.1:c.91616T>G (TTN)	XP_011510031.1:p.Leu30539Ter
XM_011511730.1:c.65510T>G (TTN)	XP_011510032.1:p.Leu21837Ter
XM_011511731.1:c.65369T>G (TTN)	XP_011510033.1:p.Leu21790Ter
XM_017004819.1:c.91412T>G (TTN)	XP_016860308.1:p.Leu30471Ter
XM_017004820.1:c.86810T>G (TTN)	XP_016860309.1:p.Leu28937Ter
XM_017004821.1:c.86807T>G (TTN)	XP_016860310.1:p.Leu28936Ter
XM_017004822.1:c.83849T>G (TTN)	XP_016860311.1:p.Leu27950Ter
XM_017004823.1:c.65465T>G (TTN)	XP_016860312.1:p.Leu21822Ter
XM_024453094.1:c.86960T>G (TTN)	XP_024308862.1:p.Leu28987Ter
XM_024453095.1:c.86957T>G (TTN)	XP_024308863.1:p.Leu28986Ter
XM_024453096.1:c.86390T>G (TTN)	XP_024308864.1:p.Leu28797Ter
XM_024453097.1:c.83732T>G (TTN)	XP_024308865.1:p.Leu27911Ter
XM_024453098.1:c.83651T>G (TTN)	XP_024308866.1:p.Leu27884Ter
XM_024453099.1:c.65414T>G (TTN)	XP_024308867.1:p.Leu21805Ter
XM_024453100.1:c.55268T>G (TTN)	XP_024308868.1:p.Leu18423Ter