Canonical Allele Identifier: CA349471271

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179411468T>A (hg19) ; chr2:g.178546741T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178546741T>A , CM000664.2:g.178546741T>A	GRCh38
NC_000002.11:g.179411468T>A , CM000664.1:g.179411468T>A	GRCh37
NC_000002.10:g.179119714T>A	NCBI36
NG_011618.3:g.289062A>T , LRG_391:g.289062A>T
NG_051363.1:g.28915T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.86983A>T (TTN)	ENSP00000343764.6:p.Ile28995Phe
ENST00000342175.11:c.68068A>T (TTN)	ENSP00000340554.6:p.Ile22690Phe
ENST00000359218.10:c.67867A>T (TTN)	ENSP00000352154.5:p.Ile22623Phe
ENST00000342175.10:c.68068A>T (TTN)	ENSP00000340554.6:p.Ile22690Phe
ENST00000342992.10:c.86983A>T (TTN)	ENSP00000343764.6:p.Ile28995Phe
ENST00000359218.9:c.67867A>T (TTN)	ENSP00000352154.5:p.Ile22623Phe
ENST00000460472.6:c.67492A>T (TTN)	ENSP00000434586.1:p.Ile22498Phe
ENST00000589042.5:c.94687A>T (TTN) MANE Select	ENSP00000467141.1:p.Ile31563Phe
ENST00000591111.5:c.89764A>T (TTN)	ENSP00000465570.1:p.Ile29922Phe
ENST00000615779.4:c.89764A>T (TTN)	ENSP00000483597.1:p.Ile29922Phe
NM_001256850.1:c.89764A>T (TTN)	NP_001243779.1:p.Ile29922Phe
NM_001267550.2:c.94687A>T (TTN) MANE Select	NP_001254479.2:p.Ile31563Phe
NM_003319.4:c.67492A>T (TTN)	NP_003310.4:p.Ile22498Phe
NM_133378.4:c.86983A>T (TTN)	NP_596869.4:p.Ile28995Phe
NM_133432.3:c.67867A>T (TTN)	NP_597676.3:p.Ile22623Phe
NM_133437.4:c.68068A>T (TTN)	NP_597681.4:p.Ile22690Phe
NR_038271.1:n.446+23105T>A (TTN-AS1)
NR_038272.1:n.2043+4380T>A (TTN-AS1)
XM_011511729.1:c.93784A>T (TTN)	XP_011510031.1:p.Ile31262Phe
XM_011511730.1:c.67678A>T (TTN)	XP_011510032.1:p.Ile22560Phe
XM_011511731.1:c.67537A>T (TTN)	XP_011510033.1:p.Ile22513Phe
XM_017004819.1:c.93580A>T (TTN)	XP_016860308.1:p.Ile31194Phe
XM_017004820.1:c.88978A>T (TTN)	XP_016860309.1:p.Ile29660Phe
XM_017004821.1:c.88975A>T (TTN)	XP_016860310.1:p.Ile29659Phe
XM_017004822.1:c.86017A>T (TTN)	XP_016860311.1:p.Ile28673Phe
XM_017004823.1:c.67633A>T (TTN)	XP_016860312.1:p.Ile22545Phe
XM_024453094.1:c.89128A>T (TTN)	XP_024308862.1:p.Ile29710Phe
XM_024453095.1:c.89125A>T (TTN)	XP_024308863.1:p.Ile29709Phe
XM_024453096.1:c.88558A>T (TTN)	XP_024308864.1:p.Ile29520Phe
XM_024453097.1:c.85900A>T (TTN)	XP_024308865.1:p.Ile28634Phe
XM_024453098.1:c.85819A>T (TTN)	XP_024308866.1:p.Ile28607Phe
XM_024453099.1:c.67582A>T (TTN)	XP_024308867.1:p.Ile22528Phe
XM_024453100.1:c.57436A>T (TTN)	XP_024308868.1:p.Ile19146Phe