Canonical Allele Identifier: CA349622425

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179483505T>A (hg19) ; chr2:g.178618778T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178618778T>A , CM000664.2:g.178618778T>A	GRCh38
NC_000002.11:g.179483505T>A , CM000664.1:g.179483505T>A	GRCh37
NC_000002.10:g.179191750T>A	NCBI36
NG_011618.3:g.217025A>T , LRG_391:g.217025A>T
NG_051363.1:g.100952T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.39068A>T (TTN)	ENSP00000343764.6:p.Tyr13023Phe
ENST00000342175.11:c.20153A>T (TTN)	ENSP00000340554.6:p.Tyr6718Phe
ENST00000359218.10:c.19952A>T (TTN)	ENSP00000352154.5:p.Tyr6651Phe
ENST00000342175.10:c.20153A>T (TTN)	ENSP00000340554.6:p.Tyr6718Phe
ENST00000342992.10:c.39068A>T (TTN)	ENSP00000343764.6:p.Tyr13023Phe
ENST00000359218.9:c.19952A>T (TTN)	ENSP00000352154.5:p.Tyr6651Phe
ENST00000460472.6:c.19577A>T (TTN)	ENSP00000434586.1:p.Tyr6526Phe
ENST00000589042.5:c.46772A>T (TTN) MANE Select	ENSP00000467141.1:p.Tyr15591Phe
ENST00000591111.5:c.41849A>T (TTN)	ENSP00000465570.1:p.Tyr13950Phe
ENST00000615779.4:c.41849A>T (TTN)	ENSP00000483597.1:p.Tyr13950Phe
NM_001256850.1:c.41849A>T (TTN)	NP_001243779.1:p.Tyr13950Phe
NM_001267550.2:c.46772A>T (TTN) MANE Select	NP_001254479.2:p.Tyr15591Phe
NM_003319.4:c.19577A>T (TTN)	NP_003310.4:p.Tyr6526Phe
NM_133378.4:c.39068A>T (TTN)	NP_596869.4:p.Tyr13023Phe
NM_133432.3:c.19952A>T (TTN)	NP_597676.3:p.Tyr6651Phe
NM_133437.4:c.20153A>T (TTN)	NP_597681.4:p.Tyr6718Phe
NR_038271.1:n.1605-975T>A (TTN-AS1)
XM_011511729.1:c.45869A>T (TTN)	XP_011510031.1:p.Tyr15290Phe
XM_011511730.1:c.19763A>T (TTN)	XP_011510032.1:p.Tyr6588Phe
XM_011511731.1:c.19622A>T (TTN)	XP_011510033.1:p.Tyr6541Phe
XM_017004819.1:c.45665A>T (TTN)	XP_016860308.1:p.Tyr15222Phe
XM_017004820.1:c.41063A>T (TTN)	XP_016860309.1:p.Tyr13688Phe
XM_017004821.1:c.41060A>T (TTN)	XP_016860310.1:p.Tyr13687Phe
XM_017004822.1:c.38102A>T (TTN)	XP_016860311.1:p.Tyr12701Phe
XM_017004823.1:c.19718A>T (TTN)	XP_016860312.1:p.Tyr6573Phe
XM_024453094.1:c.41213A>T (TTN)	XP_024308862.1:p.Tyr13738Phe
XM_024453095.1:c.41210A>T (TTN)	XP_024308863.1:p.Tyr13737Phe
XM_024453096.1:c.40643A>T (TTN)	XP_024308864.1:p.Tyr13548Phe
XM_024453097.1:c.37985A>T (TTN)	XP_024308865.1:p.Tyr12662Phe
XM_024453098.1:c.37904A>T (TTN)	XP_024308866.1:p.Tyr12635Phe
XM_024453099.1:c.19667A>T (TTN)	XP_024308867.1:p.Tyr6556Phe
XM_024453100.1:c.9521A>T (TTN)	XP_024308868.1:p.Tyr3174Phe