Canonical Allele Identifier: CA349479840

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179412461T>A (hg19) ; chr2:g.178547734T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178547734T>A , CM000664.2:g.178547734T>A	GRCh38
NC_000002.11:g.179412461T>A , CM000664.1:g.179412461T>A	GRCh37
NC_000002.10:g.179120707T>A	NCBI36
NG_011618.3:g.288069A>T , LRG_391:g.288069A>T
NG_051363.1:g.29908T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.86188A>T (TTN)	ENSP00000343764.6:p.Thr28730Ser
ENST00000342175.11:c.67273A>T (TTN)	ENSP00000340554.6:p.Thr22425Ser
ENST00000359218.10:c.67072A>T (TTN)	ENSP00000352154.5:p.Thr22358Ser
ENST00000342175.10:c.67273A>T (TTN)	ENSP00000340554.6:p.Thr22425Ser
ENST00000342992.10:c.86188A>T (TTN)	ENSP00000343764.6:p.Thr28730Ser
ENST00000359218.9:c.67072A>T (TTN)	ENSP00000352154.5:p.Thr22358Ser
ENST00000460472.6:c.66697A>T (TTN)	ENSP00000434586.1:p.Thr22233Ser
ENST00000589042.5:c.93892A>T (TTN) MANE Select	ENSP00000467141.1:p.Thr31298Ser
ENST00000591111.5:c.88969A>T (TTN)	ENSP00000465570.1:p.Thr29657Ser
ENST00000615779.4:c.88969A>T (TTN)	ENSP00000483597.1:p.Thr29657Ser
NM_001256850.1:c.88969A>T (TTN)	NP_001243779.1:p.Thr29657Ser
NM_001267550.2:c.93892A>T (TTN) MANE Select	NP_001254479.2:p.Thr31298Ser
NM_003319.4:c.66697A>T (TTN)	NP_003310.4:p.Thr22233Ser
NM_133378.4:c.86188A>T (TTN)	NP_596869.4:p.Thr28730Ser
NM_133432.3:c.67072A>T (TTN)	NP_597676.3:p.Thr22358Ser
NM_133437.4:c.67273A>T (TTN)	NP_597681.4:p.Thr22425Ser
NR_038271.1:n.447-23566T>A (TTN-AS1)
NR_038272.1:n.2043+5373T>A (TTN-AS1)
XM_011511729.1:c.92989A>T (TTN)	XP_011510031.1:p.Thr30997Ser
XM_011511730.1:c.66883A>T (TTN)	XP_011510032.1:p.Thr22295Ser
XM_011511731.1:c.66742A>T (TTN)	XP_011510033.1:p.Thr22248Ser
XM_017004819.1:c.92785A>T (TTN)	XP_016860308.1:p.Thr30929Ser
XM_017004820.1:c.88183A>T (TTN)	XP_016860309.1:p.Thr29395Ser
XM_017004821.1:c.88180A>T (TTN)	XP_016860310.1:p.Thr29394Ser
XM_017004822.1:c.85222A>T (TTN)	XP_016860311.1:p.Thr28408Ser
XM_017004823.1:c.66838A>T (TTN)	XP_016860312.1:p.Thr22280Ser
XM_024453094.1:c.88333A>T (TTN)	XP_024308862.1:p.Thr29445Ser
XM_024453095.1:c.88330A>T (TTN)	XP_024308863.1:p.Thr29444Ser
XM_024453096.1:c.87763A>T (TTN)	XP_024308864.1:p.Thr29255Ser
XM_024453097.1:c.85105A>T (TTN)	XP_024308865.1:p.Thr28369Ser
XM_024453098.1:c.85024A>T (TTN)	XP_024308866.1:p.Thr28342Ser
XM_024453099.1:c.66787A>T (TTN)	XP_024308867.1:p.Thr22263Ser
XM_024453100.1:c.56641A>T (TTN)	XP_024308868.1:p.Thr18881Ser