Canonical Allele Identifier: CA349658773

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179439630A>T (hg19) ; chr2:g.178574903A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178574903A>T , CM000664.2:g.178574903A>T	GRCh38
NC_000002.11:g.179439630A>T , CM000664.1:g.179439630A>T	GRCh37
NC_000002.10:g.179147876A>T	NCBI36
NG_011618.3:g.260900T>A , LRG_391:g.260900T>A
NG_051363.1:g.57077A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.63525T>A (TTN)	ENSP00000343764.6:p.Phe21175Leu
ENST00000342175.11:c.44610T>A (TTN)	ENSP00000340554.6:p.Phe14870Leu
ENST00000359218.10:c.44409T>A (TTN)	ENSP00000352154.5:p.Phe14803Leu
ENST00000342175.10:c.44610T>A (TTN)	ENSP00000340554.6:p.Phe14870Leu
ENST00000342992.10:c.63525T>A (TTN)	ENSP00000343764.6:p.Phe21175Leu
ENST00000359218.9:c.44409T>A (TTN)	ENSP00000352154.5:p.Phe14803Leu
ENST00000460472.6:c.44034T>A (TTN)	ENSP00000434586.1:p.Phe14678Leu
ENST00000589042.5:c.71229T>A (TTN) MANE Select	ENSP00000467141.1:p.Phe23743Leu
ENST00000591111.5:c.66306T>A (TTN)	ENSP00000465570.1:p.Phe22102Leu
ENST00000615779.4:c.66306T>A (TTN)	ENSP00000483597.1:p.Phe22102Leu
NM_001256850.1:c.66306T>A (TTN)	NP_001243779.1:p.Phe22102Leu
NM_001267550.2:c.71229T>A (TTN) MANE Select	NP_001254479.2:p.Phe23743Leu
NM_003319.4:c.44034T>A (TTN)	NP_003310.4:p.Phe14678Leu
NM_133378.4:c.63525T>A (TTN)	NP_596869.4:p.Phe21175Leu
NM_133432.3:c.44409T>A (TTN)	NP_597676.3:p.Phe14803Leu
NM_133437.4:c.44610T>A (TTN)	NP_597681.4:p.Phe14870Leu
NR_038271.1:n.596+3454A>T (TTN-AS1)
NR_038272.1:n.2044-7669A>T (TTN-AS1)
XM_011511729.1:c.70326T>A (TTN)	XP_011510031.1:p.Phe23442Leu
XM_011511730.1:c.44220T>A (TTN)	XP_011510032.1:p.Phe14740Leu
XM_011511731.1:c.44079T>A (TTN)	XP_011510033.1:p.Phe14693Leu
XM_017004819.1:c.70122T>A (TTN)	XP_016860308.1:p.Phe23374Leu
XM_017004820.1:c.65520T>A (TTN)	XP_016860309.1:p.Phe21840Leu
XM_017004821.1:c.65517T>A (TTN)	XP_016860310.1:p.Phe21839Leu
XM_017004822.1:c.62559T>A (TTN)	XP_016860311.1:p.Phe20853Leu
XM_017004823.1:c.44175T>A (TTN)	XP_016860312.1:p.Phe14725Leu
XM_024453094.1:c.65670T>A (TTN)	XP_024308862.1:p.Phe21890Leu
XM_024453095.1:c.65667T>A (TTN)	XP_024308863.1:p.Phe21889Leu
XM_024453096.1:c.65100T>A (TTN)	XP_024308864.1:p.Phe21700Leu
XM_024453097.1:c.62442T>A (TTN)	XP_024308865.1:p.Phe20814Leu
XM_024453098.1:c.62361T>A (TTN)	XP_024308866.1:p.Phe20787Leu
XM_024453099.1:c.44124T>A (TTN)	XP_024308867.1:p.Phe14708Leu
XM_024453100.1:c.33978T>A (TTN)	XP_024308868.1:p.Phe11326Leu