Canonical Allele Identifier: CA1987667

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs768322675
• ExAC: 2:179416387 T / A
• MyVariant Identifiers: chr2:g.179416387T>A (hg19) ; chr2:g.178551660T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178551660T>A , CM000664.2:g.178551660T>A	GRCh38
NC_000002.11:g.179416387T>A , CM000664.1:g.179416387T>A	GRCh37
NC_000002.10:g.179124633T>A	NCBI36
NG_011618.3:g.284143A>T , LRG_391:g.284143A>T
NG_051363.1:g.33834T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.83536A>T (TTN)	ENSP00000343764.6:p.Ser27846Cys
ENST00000342175.11:c.64621A>T (TTN)	ENSP00000340554.6:p.Ser21541Cys
ENST00000359218.10:c.64420A>T (TTN)	ENSP00000352154.5:p.Ser21474Cys
ENST00000342175.10:c.64621A>T (TTN)	ENSP00000340554.6:p.Ser21541Cys
ENST00000342992.10:c.83536A>T (TTN)	ENSP00000343764.6:p.Ser27846Cys
ENST00000359218.9:c.64420A>T (TTN)	ENSP00000352154.5:p.Ser21474Cys
ENST00000460472.6:c.64045A>T (TTN)	ENSP00000434586.1:p.Ser21349Cys
ENST00000589042.5:c.91240A>T (TTN) MANE Select	ENSP00000467141.1:p.Ser30414Cys
ENST00000591111.5:c.86317A>T (TTN)	ENSP00000465570.1:p.Ser28773Cys
ENST00000615779.4:c.86317A>T (TTN)	ENSP00000483597.1:p.Ser28773Cys
NM_001256850.1:c.86317A>T (TTN)	NP_001243779.1:p.Ser28773Cys
NM_001267550.2:c.91240A>T (TTN) MANE Select	NP_001254479.2:p.Ser30414Cys
NM_003319.4:c.64045A>T (TTN)	NP_003310.4:p.Ser21349Cys
NM_133378.4:c.83536A>T (TTN)	NP_596869.4:p.Ser27846Cys
NM_133432.3:c.64420A>T (TTN)	NP_597676.3:p.Ser21474Cys
NM_133437.4:c.64621A>T (TTN)	NP_597681.4:p.Ser21541Cys
NR_038271.1:n.447-19640T>A (TTN-AS1)
NR_038272.1:n.2043+9299T>A (TTN-AS1)
XM_011511729.1:c.90337A>T (TTN)	XP_011510031.1:p.Ser30113Cys
XM_011511730.1:c.64231A>T (TTN)	XP_011510032.1:p.Ser21411Cys
XM_011511731.1:c.64090A>T (TTN)	XP_011510033.1:p.Ser21364Cys
XM_017004819.1:c.90133A>T (TTN)	XP_016860308.1:p.Ser30045Cys
XM_017004820.1:c.85531A>T (TTN)	XP_016860309.1:p.Ser28511Cys
XM_017004821.1:c.85528A>T (TTN)	XP_016860310.1:p.Ser28510Cys
XM_017004822.1:c.82570A>T (TTN)	XP_016860311.1:p.Ser27524Cys
XM_017004823.1:c.64186A>T (TTN)	XP_016860312.1:p.Ser21396Cys
XM_024453094.1:c.85681A>T (TTN)	XP_024308862.1:p.Ser28561Cys
XM_024453095.1:c.85678A>T (TTN)	XP_024308863.1:p.Ser28560Cys
XM_024453096.1:c.85111A>T (TTN)	XP_024308864.1:p.Ser28371Cys
XM_024453097.1:c.82453A>T (TTN)	XP_024308865.1:p.Ser27485Cys
XM_024453098.1:c.82372A>T (TTN)	XP_024308866.1:p.Ser27458Cys
XM_024453099.1:c.64135A>T (TTN)	XP_024308867.1:p.Ser21379Cys
XM_024453100.1:c.53989A>T (TTN)	XP_024308868.1:p.Ser17997Cys