Canonical Allele Identifier: CA1993249

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178599360A>G , CM000664.2:g.178599360A>G	GRCh38
NC_000002.11:g.179464087A>G , CM000664.1:g.179464087A>G	GRCh37
NC_000002.10:g.179172332A>G	NCBI36
NG_011618.3:g.236443T>C , LRG_391:g.236443T>C
NG_051363.1:g.81534A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.56433T>C (TTN) MANE Select	NP_001254479.2:p.Asp18811=
ENST00000589042.5:c.56433T>C (TTN) MANE Select	ENSP00000467141.1:p.Asp18811=
NM_001256850.1:c.51510T>C (TTN)	NP_001243779.1:p.Asp17170=
NM_003319.4:c.29238T>C (TTN)	NP_003310.4:p.Asp9746=
NM_133378.4:c.48729T>C (TTN)	NP_596869.4:p.Asp16243=
NM_133432.3:c.29613T>C (TTN)	NP_597676.3:p.Asp9871=
NM_133437.4:c.29814T>C (TTN)	NP_597681.4:p.Asp9938=
NR_038271.1:n.682+1679A>G (TTN-AS1)
NR_038272.1:n.3569-234A>G (TTN-AS1)
ENST00000342175.10:c.29814T>C (TTN)	ENSP00000340554.6:p.Asp9938=
ENST00000342175.11:c.29814T>C (TTN)	ENSP00000340554.6:p.Asp9938=
ENST00000342992.10:c.48729T>C (TTN)	ENSP00000343764.6:p.Asp16243=
ENST00000342992.11:c.48729T>C (TTN)	ENSP00000343764.6:p.Asp16243=
ENST00000359218.10:c.29613T>C (TTN)	ENSP00000352154.5:p.Asp9871=
ENST00000359218.9:c.29613T>C (TTN)	ENSP00000352154.5:p.Asp9871=
ENST00000460472.6:c.29238T>C (TTN)	ENSP00000434586.1:p.Asp9746=
ENST00000591111.5:c.51510T>C (TTN)	ENSP00000465570.1:p.Asp17170=
ENST00000615779.4:c.51510T>C (TTN)	ENSP00000483597.1:p.Asp17170=
XM_011511729.1:c.55530T>C (TTN)	XP_011510031.1:p.Asp18510=
XM_011511730.1:c.29424T>C (TTN)	XP_011510032.1:p.Asp9808=
XM_011511731.1:c.29283T>C (TTN)	XP_011510033.1:p.Asp9761=
XM_017004819.1:c.55326T>C (TTN)	XP_016860308.1:p.Asp18442=
XM_017004820.1:c.50724T>C (TTN)	XP_016860309.1:p.Asp16908=
XM_017004821.1:c.50721T>C (TTN)	XP_016860310.1:p.Asp16907=
XM_017004822.1:c.47763T>C (TTN)	XP_016860311.1:p.Asp15921=
XM_017004823.1:c.29379T>C (TTN)	XP_016860312.1:p.Asp9793=
XM_024453094.1:c.50874T>C (TTN)	XP_024308862.1:p.Asp16958=
XM_024453095.1:c.50871T>C (TTN)	XP_024308863.1:p.Asp16957=
XM_024453096.1:c.50304T>C (TTN)	XP_024308864.1:p.Asp16768=
XM_024453097.1:c.47646T>C (TTN)	XP_024308865.1:p.Asp15882=
XM_024453098.1:c.47565T>C (TTN)	XP_024308866.1:p.Asp15855=
XM_024453099.1:c.29328T>C (TTN)	XP_024308867.1:p.Asp9776=
XM_024453100.1:c.19182T>C (TTN)	XP_024308868.1:p.Asp6394=