Canonical Allele Identifier: CA349628245

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179435678T>A (hg19) ; chr2:g.178570951T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178570951T>A , CM000664.2:g.178570951T>A	GRCh38
NC_000002.11:g.179435678T>A , CM000664.1:g.179435678T>A	GRCh37
NC_000002.10:g.179143924T>A	NCBI36
NG_011618.3:g.264852A>T , LRG_391:g.264852A>T
NG_051363.1:g.53125T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.67477A>T (TTN)	ENSP00000343764.6:p.Ile22493Phe
ENST00000342175.11:c.48562A>T (TTN)	ENSP00000340554.6:p.Ile16188Phe
ENST00000359218.10:c.48361A>T (TTN)	ENSP00000352154.5:p.Ile16121Phe
ENST00000342175.10:c.48562A>T (TTN)	ENSP00000340554.6:p.Ile16188Phe
ENST00000342992.10:c.67477A>T (TTN)	ENSP00000343764.6:p.Ile22493Phe
ENST00000359218.9:c.48361A>T (TTN)	ENSP00000352154.5:p.Ile16121Phe
ENST00000460472.6:c.47986A>T (TTN)	ENSP00000434586.1:p.Ile15996Phe
ENST00000589042.5:c.75181A>T (TTN) MANE Select	ENSP00000467141.1:p.Ile25061Phe
ENST00000591111.5:c.70258A>T (TTN)	ENSP00000465570.1:p.Ile23420Phe
ENST00000615779.4:c.70258A>T (TTN)	ENSP00000483597.1:p.Ile23420Phe
NM_001256850.1:c.70258A>T (TTN)	NP_001243779.1:p.Ile23420Phe
NM_001267550.2:c.75181A>T (TTN) MANE Select	NP_001254479.2:p.Ile25061Phe
NM_003319.4:c.47986A>T (TTN)	NP_003310.4:p.Ile15996Phe
NM_133378.4:c.67477A>T (TTN)	NP_596869.4:p.Ile22493Phe
NM_133432.3:c.48361A>T (TTN)	NP_597676.3:p.Ile16121Phe
NM_133437.4:c.48562A>T (TTN)	NP_597681.4:p.Ile16188Phe
NR_038271.1:n.447-349T>A (TTN-AS1)
NR_038272.1:n.2044-11621T>A (TTN-AS1)
XM_011511729.1:c.74278A>T (TTN)	XP_011510031.1:p.Ile24760Phe
XM_011511730.1:c.48172A>T (TTN)	XP_011510032.1:p.Ile16058Phe
XM_011511731.1:c.48031A>T (TTN)	XP_011510033.1:p.Ile16011Phe
XM_017004819.1:c.74074A>T (TTN)	XP_016860308.1:p.Ile24692Phe
XM_017004820.1:c.69472A>T (TTN)	XP_016860309.1:p.Ile23158Phe
XM_017004821.1:c.69469A>T (TTN)	XP_016860310.1:p.Ile23157Phe
XM_017004822.1:c.66511A>T (TTN)	XP_016860311.1:p.Ile22171Phe
XM_017004823.1:c.48127A>T (TTN)	XP_016860312.1:p.Ile16043Phe
XM_024453094.1:c.69622A>T (TTN)	XP_024308862.1:p.Ile23208Phe
XM_024453095.1:c.69619A>T (TTN)	XP_024308863.1:p.Ile23207Phe
XM_024453096.1:c.69052A>T (TTN)	XP_024308864.1:p.Ile23018Phe
XM_024453097.1:c.66394A>T (TTN)	XP_024308865.1:p.Ile22132Phe
XM_024453098.1:c.66313A>T (TTN)	XP_024308866.1:p.Ile22105Phe
XM_024453099.1:c.48076A>T (TTN)	XP_024308867.1:p.Ile16026Phe
XM_024453100.1:c.37930A>T (TTN)	XP_024308868.1:p.Ile12644Phe