Canonical Allele Identifier: CA349562621

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179426800A>T (hg19) ; chr2:g.178562073A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178562073A>T , CM000664.2:g.178562073A>T	GRCh38
NC_000002.11:g.179426800A>T , CM000664.1:g.179426800A>T	GRCh37
NC_000002.10:g.179135046A>T	NCBI36
NG_011618.3:g.273730T>A , LRG_391:g.273730T>A
NG_051363.1:g.44247A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.76355T>A (TTN)	ENSP00000343764.6:p.Leu25452Gln
ENST00000342175.11:c.57440T>A (TTN)	ENSP00000340554.6:p.Leu19147Gln
ENST00000359218.10:c.57239T>A (TTN)	ENSP00000352154.5:p.Leu19080Gln
ENST00000342175.10:c.57440T>A (TTN)	ENSP00000340554.6:p.Leu19147Gln
ENST00000342992.10:c.76355T>A (TTN)	ENSP00000343764.6:p.Leu25452Gln
ENST00000359218.9:c.57239T>A (TTN)	ENSP00000352154.5:p.Leu19080Gln
ENST00000460472.6:c.56864T>A (TTN)	ENSP00000434586.1:p.Leu18955Gln
ENST00000589042.5:c.84059T>A (TTN) MANE Select	ENSP00000467141.1:p.Leu28020Gln
ENST00000591111.5:c.79136T>A (TTN)	ENSP00000465570.1:p.Leu26379Gln
ENST00000615779.4:c.79136T>A (TTN)	ENSP00000483597.1:p.Leu26379Gln
NM_001256850.1:c.79136T>A (TTN)	NP_001243779.1:p.Leu26379Gln
NM_001267550.2:c.84059T>A (TTN) MANE Select	NP_001254479.2:p.Leu28020Gln
NM_003319.4:c.56864T>A (TTN)	NP_003310.4:p.Leu18955Gln
NM_133378.4:c.76355T>A (TTN)	NP_596869.4:p.Leu25452Gln
NM_133432.3:c.57239T>A (TTN)	NP_597676.3:p.Leu19080Gln
NM_133437.4:c.57440T>A (TTN)	NP_597681.4:p.Leu19147Gln
NR_038271.1:n.447-9227A>T (TTN-AS1)
NR_038272.1:n.2043+19712A>T (TTN-AS1)
XM_011511729.1:c.83156T>A (TTN)	XP_011510031.1:p.Leu27719Gln
XM_011511730.1:c.57050T>A (TTN)	XP_011510032.1:p.Leu19017Gln
XM_011511731.1:c.56909T>A (TTN)	XP_011510033.1:p.Leu18970Gln
XM_017004819.1:c.82952T>A (TTN)	XP_016860308.1:p.Leu27651Gln
XM_017004820.1:c.78350T>A (TTN)	XP_016860309.1:p.Leu26117Gln
XM_017004821.1:c.78347T>A (TTN)	XP_016860310.1:p.Leu26116Gln
XM_017004822.1:c.75389T>A (TTN)	XP_016860311.1:p.Leu25130Gln
XM_017004823.1:c.57005T>A (TTN)	XP_016860312.1:p.Leu19002Gln
XM_024453094.1:c.78500T>A (TTN)	XP_024308862.1:p.Leu26167Gln
XM_024453095.1:c.78497T>A (TTN)	XP_024308863.1:p.Leu26166Gln
XM_024453096.1:c.77930T>A (TTN)	XP_024308864.1:p.Leu25977Gln
XM_024453097.1:c.75272T>A (TTN)	XP_024308865.1:p.Leu25091Gln
XM_024453098.1:c.75191T>A (TTN)	XP_024308866.1:p.Leu25064Gln
XM_024453099.1:c.56954T>A (TTN)	XP_024308867.1:p.Leu18985Gln
XM_024453100.1:c.46808T>A (TTN)	XP_024308868.1:p.Leu15603Gln