Canonical Allele Identifier: CA349504013

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179416563T>C (hg19) ; chr2:g.178551836T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178551836T>C , CM000664.2:g.178551836T>C	GRCh38
NC_000002.11:g.179416563T>C , CM000664.1:g.179416563T>C	GRCh37
NC_000002.10:g.179124809T>C	NCBI36
NG_011618.3:g.283967A>G , LRG_391:g.283967A>G
NG_051363.1:g.34010T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.83360A>G (TTN)	ENSP00000343764.6:p.Glu27787Gly
ENST00000342175.11:c.64445A>G (TTN)	ENSP00000340554.6:p.Glu21482Gly
ENST00000359218.10:c.64244A>G (TTN)	ENSP00000352154.5:p.Glu21415Gly
ENST00000342175.10:c.64445A>G (TTN)	ENSP00000340554.6:p.Glu21482Gly
ENST00000342992.10:c.83360A>G (TTN)	ENSP00000343764.6:p.Glu27787Gly
ENST00000359218.9:c.64244A>G (TTN)	ENSP00000352154.5:p.Glu21415Gly
ENST00000460472.6:c.63869A>G (TTN)	ENSP00000434586.1:p.Glu21290Gly
ENST00000589042.5:c.91064A>G (TTN) MANE Select	ENSP00000467141.1:p.Glu30355Gly
ENST00000591111.5:c.86141A>G (TTN)	ENSP00000465570.1:p.Glu28714Gly
ENST00000615779.4:c.86141A>G (TTN)	ENSP00000483597.1:p.Glu28714Gly
NM_001256850.1:c.86141A>G (TTN)	NP_001243779.1:p.Glu28714Gly
NM_001267550.2:c.91064A>G (TTN) MANE Select	NP_001254479.2:p.Glu30355Gly
NM_003319.4:c.63869A>G (TTN)	NP_003310.4:p.Glu21290Gly
NM_133378.4:c.83360A>G (TTN)	NP_596869.4:p.Glu27787Gly
NM_133432.3:c.64244A>G (TTN)	NP_597676.3:p.Glu21415Gly
NM_133437.4:c.64445A>G (TTN)	NP_597681.4:p.Glu21482Gly
NR_038271.1:n.447-19464T>C (TTN-AS1)
NR_038272.1:n.2043+9475T>C (TTN-AS1)
XM_011511729.1:c.90161A>G (TTN)	XP_011510031.1:p.Glu30054Gly
XM_011511730.1:c.64055A>G (TTN)	XP_011510032.1:p.Glu21352Gly
XM_011511731.1:c.63914A>G (TTN)	XP_011510033.1:p.Glu21305Gly
XM_017004819.1:c.89957A>G (TTN)	XP_016860308.1:p.Glu29986Gly
XM_017004820.1:c.85355A>G (TTN)	XP_016860309.1:p.Glu28452Gly
XM_017004821.1:c.85352A>G (TTN)	XP_016860310.1:p.Glu28451Gly
XM_017004822.1:c.82394A>G (TTN)	XP_016860311.1:p.Glu27465Gly
XM_017004823.1:c.64010A>G (TTN)	XP_016860312.1:p.Glu21337Gly
XM_024453094.1:c.85505A>G (TTN)	XP_024308862.1:p.Glu28502Gly
XM_024453095.1:c.85502A>G (TTN)	XP_024308863.1:p.Glu28501Gly
XM_024453096.1:c.84935A>G (TTN)	XP_024308864.1:p.Glu28312Gly
XM_024453097.1:c.82277A>G (TTN)	XP_024308865.1:p.Glu27426Gly
XM_024453098.1:c.82196A>G (TTN)	XP_024308866.1:p.Glu27399Gly
XM_024453099.1:c.63959A>G (TTN)	XP_024308867.1:p.Glu21320Gly
XM_024453100.1:c.53813A>G (TTN)	XP_024308868.1:p.Glu17938Gly