Canonical Allele Identifier: CA1990209

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178571793C>T , CM000664.2:g.178571793C>T	GRCh38
NC_000002.11:g.179436520C>T , CM000664.1:g.179436520C>T	GRCh37
NC_000002.10:g.179144766C>T	NCBI36
NG_011618.3:g.264010G>A , LRG_391:g.264010G>A
NG_051363.1:g.53967C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.74339G>A (TTN) MANE Select	NP_001254479.2:p.Arg24780Gln
ENST00000589042.5:c.74339G>A (TTN) MANE Select	ENSP00000467141.1:p.Arg24780Gln
NM_001256850.1:c.69416G>A (TTN)	NP_001243779.1:p.Arg23139Gln
NM_003319.4:c.47144G>A (TTN)	NP_003310.4:p.Arg15715Gln
NM_133378.4:c.66635G>A (TTN)	NP_596869.4:p.Arg22212Gln
NM_133432.3:c.47519G>A (TTN)	NP_597676.3:p.Arg15840Gln
NM_133437.4:c.47720G>A (TTN)	NP_597681.4:p.Arg15907Gln
NR_038271.1:n.596+344C>T (TTN-AS1)
NR_038272.1:n.2044-10779C>T (TTN-AS1)
ENST00000342175.10:c.47720G>A (TTN)	ENSP00000340554.6:p.Arg15907Gln
ENST00000342175.11:c.47720G>A (TTN)	ENSP00000340554.6:p.Arg15907Gln
ENST00000342992.10:c.66635G>A (TTN)	ENSP00000343764.6:p.Arg22212Gln
ENST00000342992.11:c.66635G>A (TTN)	ENSP00000343764.6:p.Arg22212Gln
ENST00000359218.10:c.47519G>A (TTN)	ENSP00000352154.5:p.Arg15840Gln
ENST00000359218.9:c.47519G>A (TTN)	ENSP00000352154.5:p.Arg15840Gln
ENST00000460472.6:c.47144G>A (TTN)	ENSP00000434586.1:p.Arg15715Gln
ENST00000591111.5:c.69416G>A (TTN)	ENSP00000465570.1:p.Arg23139Gln
ENST00000615779.4:c.69416G>A (TTN)	ENSP00000483597.1:p.Arg23139Gln
XM_011511729.1:c.73436G>A (TTN)	XP_011510031.1:p.Arg24479Gln
XM_011511730.1:c.47330G>A (TTN)	XP_011510032.1:p.Arg15777Gln
XM_011511731.1:c.47189G>A (TTN)	XP_011510033.1:p.Arg15730Gln
XM_017004819.1:c.73232G>A (TTN)	XP_016860308.1:p.Arg24411Gln
XM_017004820.1:c.68630G>A (TTN)	XP_016860309.1:p.Arg22877Gln
XM_017004821.1:c.68627G>A (TTN)	XP_016860310.1:p.Arg22876Gln
XM_017004822.1:c.65669G>A (TTN)	XP_016860311.1:p.Arg21890Gln
XM_017004823.1:c.47285G>A (TTN)	XP_016860312.1:p.Arg15762Gln
XM_024453094.1:c.68780G>A (TTN)	XP_024308862.1:p.Arg22927Gln
XM_024453095.1:c.68777G>A (TTN)	XP_024308863.1:p.Arg22926Gln
XM_024453096.1:c.68210G>A (TTN)	XP_024308864.1:p.Arg22737Gln
XM_024453097.1:c.65552G>A (TTN)	XP_024308865.1:p.Arg21851Gln
XM_024453098.1:c.65471G>A (TTN)	XP_024308866.1:p.Arg21824Gln
XM_024453099.1:c.47234G>A (TTN)	XP_024308867.1:p.Arg15745Gln
XM_024453100.1:c.37088G>A (TTN)	XP_024308868.1:p.Arg12363Gln