Canonical Allele Identifier: CA1992144

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178588593A>G , CM000664.2:g.178588593A>G	GRCh38
NC_000002.11:g.179453320A>G , CM000664.1:g.179453320A>G	GRCh37
NC_000002.10:g.179161566A>G	NCBI36
NG_011618.3:g.247210T>C , LRG_391:g.247210T>C
NG_051363.1:g.70767A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.63132T>C (TTN) MANE Select	NP_001254479.2:p.Ile21044=
ENST00000589042.5:c.63132T>C (TTN) MANE Select	ENSP00000467141.1:p.Ile21044=
NM_001256850.1:c.58209T>C (TTN)	NP_001243779.1:p.Ile19403=
NM_003319.4:c.35937T>C (TTN)	NP_003310.4:p.Ile11979=
NM_133378.4:c.55428T>C (TTN)	NP_596869.4:p.Ile18476=
NM_133432.3:c.36312T>C (TTN)	NP_597676.3:p.Ile12104=
NM_133437.4:c.36513T>C (TTN)	NP_597681.4:p.Ile12171=
NR_038271.1:n.597-9003A>G (TTN-AS1)
NR_038272.1:n.3189-2546A>G (TTN-AS1)
ENST00000342175.10:c.36513T>C (TTN)	ENSP00000340554.6:p.Ile12171=
ENST00000342175.11:c.36513T>C (TTN)	ENSP00000340554.6:p.Ile12171=
ENST00000342992.10:c.55428T>C (TTN)	ENSP00000343764.6:p.Ile18476=
ENST00000342992.11:c.55428T>C (TTN)	ENSP00000343764.6:p.Ile18476=
ENST00000359218.10:c.36312T>C (TTN)	ENSP00000352154.5:p.Ile12104=
ENST00000359218.9:c.36312T>C (TTN)	ENSP00000352154.5:p.Ile12104=
ENST00000460472.6:c.35937T>C (TTN)	ENSP00000434586.1:p.Ile11979=
ENST00000591111.5:c.58209T>C (TTN)	ENSP00000465570.1:p.Ile19403=
ENST00000615779.4:c.58209T>C (TTN)	ENSP00000483597.1:p.Ile19403=
XM_011511729.1:c.62229T>C (TTN)	XP_011510031.1:p.Ile20743=
XM_011511730.1:c.36123T>C (TTN)	XP_011510032.1:p.Ile12041=
XM_011511731.1:c.35982T>C (TTN)	XP_011510033.1:p.Ile11994=
XM_017004819.1:c.62025T>C (TTN)	XP_016860308.1:p.Ile20675=
XM_017004820.1:c.57423T>C (TTN)	XP_016860309.1:p.Ile19141=
XM_017004821.1:c.57420T>C (TTN)	XP_016860310.1:p.Ile19140=
XM_017004822.1:c.54462T>C (TTN)	XP_016860311.1:p.Ile18154=
XM_017004823.1:c.36078T>C (TTN)	XP_016860312.1:p.Ile12026=
XM_024453094.1:c.57573T>C (TTN)	XP_024308862.1:p.Ile19191=
XM_024453095.1:c.57570T>C (TTN)	XP_024308863.1:p.Ile19190=
XM_024453096.1:c.57003T>C (TTN)	XP_024308864.1:p.Ile19001=
XM_024453097.1:c.54345T>C (TTN)	XP_024308865.1:p.Ile18115=
XM_024453098.1:c.54264T>C (TTN)	XP_024308866.1:p.Ile18088=
XM_024453099.1:c.36027T>C (TTN)	XP_024308867.1:p.Ile12009=
XM_024453100.1:c.25881T>C (TTN)	XP_024308868.1:p.Ile8627=