Canonical Allele Identifier: CA349544139

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179424470T>G (hg19) ; chr2:g.178559743T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178559743T>G , CM000664.2:g.178559743T>G	GRCh38
NC_000002.11:g.179424470T>G , CM000664.1:g.179424470T>G	GRCh37
NC_000002.10:g.179132716T>G	NCBI36
NG_011618.3:g.276060A>C , LRG_391:g.276060A>C
NG_051363.1:g.41917T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.78685A>C (TTN)	ENSP00000343764.6:p.Thr26229Pro
ENST00000342175.11:c.59770A>C (TTN)	ENSP00000340554.6:p.Thr19924Pro
ENST00000359218.10:c.59569A>C (TTN)	ENSP00000352154.5:p.Thr19857Pro
ENST00000342175.10:c.59770A>C (TTN)	ENSP00000340554.6:p.Thr19924Pro
ENST00000342992.10:c.78685A>C (TTN)	ENSP00000343764.6:p.Thr26229Pro
ENST00000359218.9:c.59569A>C (TTN)	ENSP00000352154.5:p.Thr19857Pro
ENST00000460472.6:c.59194A>C (TTN)	ENSP00000434586.1:p.Thr19732Pro
ENST00000589042.5:c.86389A>C (TTN) MANE Select	ENSP00000467141.1:p.Thr28797Pro
ENST00000591111.5:c.81466A>C (TTN)	ENSP00000465570.1:p.Thr27156Pro
ENST00000615779.4:c.81466A>C (TTN)	ENSP00000483597.1:p.Thr27156Pro
NM_001256850.1:c.81466A>C (TTN)	NP_001243779.1:p.Thr27156Pro
NM_001267550.2:c.86389A>C (TTN) MANE Select	NP_001254479.2:p.Thr28797Pro
NM_003319.4:c.59194A>C (TTN)	NP_003310.4:p.Thr19732Pro
NM_133378.4:c.78685A>C (TTN)	NP_596869.4:p.Thr26229Pro
NM_133432.3:c.59569A>C (TTN)	NP_597676.3:p.Thr19857Pro
NM_133437.4:c.59770A>C (TTN)	NP_597681.4:p.Thr19924Pro
NR_038271.1:n.447-11557T>G (TTN-AS1)
NR_038272.1:n.2043+17382T>G (TTN-AS1)
XM_011511729.1:c.85486A>C (TTN)	XP_011510031.1:p.Thr28496Pro
XM_011511730.1:c.59380A>C (TTN)	XP_011510032.1:p.Thr19794Pro
XM_011511731.1:c.59239A>C (TTN)	XP_011510033.1:p.Thr19747Pro
XM_017004819.1:c.85282A>C (TTN)	XP_016860308.1:p.Thr28428Pro
XM_017004820.1:c.80680A>C (TTN)	XP_016860309.1:p.Thr26894Pro
XM_017004821.1:c.80677A>C (TTN)	XP_016860310.1:p.Thr26893Pro
XM_017004822.1:c.77719A>C (TTN)	XP_016860311.1:p.Thr25907Pro
XM_017004823.1:c.59335A>C (TTN)	XP_016860312.1:p.Thr19779Pro
XM_024453094.1:c.80830A>C (TTN)	XP_024308862.1:p.Thr26944Pro
XM_024453095.1:c.80827A>C (TTN)	XP_024308863.1:p.Thr26943Pro
XM_024453096.1:c.80260A>C (TTN)	XP_024308864.1:p.Thr26754Pro
XM_024453097.1:c.77602A>C (TTN)	XP_024308865.1:p.Thr25868Pro
XM_024453098.1:c.77521A>C (TTN)	XP_024308866.1:p.Thr25841Pro
XM_024453099.1:c.59284A>C (TTN)	XP_024308867.1:p.Thr19762Pro
XM_024453100.1:c.49138A>C (TTN)	XP_024308868.1:p.Thr16380Pro