Canonical Allele Identifier: CA1994908

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178616728C>G , CM000664.2:g.178616728C>G	GRCh38
NC_000002.11:g.179481455C>G , CM000664.1:g.179481455C>G	GRCh37
NC_000002.10:g.179189700C>G	NCBI36
NG_011618.3:g.219075G>C , LRG_391:g.219075G>C
NG_051363.1:g.98902C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.48160+1G>C (TTN) MANE Select	NP_001254479.2:n.48160+1G>C
ENST00000589042.5:c.48160+1G>C (TTN) MANE Select	ENSP00000467141.1:n.48160+1G>C
NM_001256850.1:c.43237+1G>C (TTN)	NP_001243779.1:n.43237+1G>C
NM_003319.4:c.20965+1G>C (TTN)	NP_003310.4:n.20965+1G>C
NM_133378.4:c.40456+1G>C (TTN)	NP_596869.4:n.40456+1G>C
NM_133432.3:c.21340+1G>C (TTN)	NP_597676.3:n.21340+1G>C
NM_133437.4:c.21541+1G>C (TTN)	NP_597681.4:n.21541+1G>C
NR_038271.1:n.1604+1354C>G (TTN-AS1)
ENST00000342175.10:c.21541+1G>C (TTN)	ENSP00000340554.6:n.21541+1G>C
ENST00000342175.11:c.21541+1G>C (TTN)	ENSP00000340554.6:n.21541+1G>C
ENST00000342992.10:c.40456+1G>C (TTN)	ENSP00000343764.6:n.40456+1G>C
ENST00000342992.11:c.40456+1G>C (TTN)	ENSP00000343764.6:n.40456+1G>C
ENST00000359218.10:c.21340+1G>C (TTN)	ENSP00000352154.5:n.21340+1G>C
ENST00000359218.9:c.21340+1G>C (TTN)	ENSP00000352154.5:n.21340+1G>C
ENST00000460472.6:c.20965+1G>C (TTN)	ENSP00000434586.1:n.20965+1G>C
ENST00000591111.5:c.43237+1G>C (TTN)	ENSP00000465570.1:n.43237+1G>C
ENST00000615779.4:c.43237+1G>C (TTN)	ENSP00000483597.1:n.43237+1G>C
XM_011511729.1:c.47257+1G>C (TTN)	XP_011510031.1:n.47257+1G>C
XM_011511730.1:c.21151+1G>C (TTN)	XP_011510032.1:n.21151+1G>C
XM_011511731.1:c.21010+1G>C (TTN)	XP_011510033.1:n.21010+1G>C
XM_017004819.1:c.47053+1G>C (TTN)	XP_016860308.1:n.47053+1G>C
XM_017004820.1:c.42451+1G>C (TTN)	XP_016860309.1:n.42451+1G>C
XM_017004821.1:c.42448+1G>C (TTN)	XP_016860310.1:n.42448+1G>C
XM_017004822.1:c.39490+1G>C (TTN)	XP_016860311.1:n.39490+1G>C
XM_017004823.1:c.21106+1G>C (TTN)	XP_016860312.1:n.21106+1G>C
XM_024453094.1:c.42601+1G>C (TTN)	XP_024308862.1:n.42601+1G>C
XM_024453095.1:c.42598+1G>C (TTN)	XP_024308863.1:n.42598+1G>C
XM_024453096.1:c.42031+1G>C (TTN)	XP_024308864.1:n.42031+1G>C
XM_024453097.1:c.39373+1G>C (TTN)	XP_024308865.1:n.39373+1G>C
XM_024453098.1:c.39292+1G>C (TTN)	XP_024308866.1:n.39292+1G>C
XM_024453099.1:c.21055+1G>C (TTN)	XP_024308867.1:n.21055+1G>C
XM_024453100.1:c.10909+1G>C (TTN)	XP_024308868.1:n.10909+1G>C