Canonical Allele Identifier: CA1990693

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178575149C>T , CM000664.2:g.178575149C>T	GRCh38
NC_000002.11:g.179439876C>T , CM000664.1:g.179439876C>T	GRCh37
NC_000002.10:g.179148122C>T	NCBI36
NG_011618.3:g.260654G>A , LRG_391:g.260654G>A
NG_051363.1:g.57323C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.70983G>A (TTN) MANE Select	NP_001254479.2:p.Pro23661=
ENST00000589042.5:c.70983G>A (TTN) MANE Select	ENSP00000467141.1:p.Pro23661=
NM_001256850.1:c.66060G>A (TTN)	NP_001243779.1:p.Pro22020=
NM_003319.4:c.43788G>A (TTN)	NP_003310.4:p.Pro14596=
NM_133378.4:c.63279G>A (TTN)	NP_596869.4:p.Pro21093=
NM_133432.3:c.44163G>A (TTN)	NP_597676.3:p.Pro14721=
NM_133437.4:c.44364G>A (TTN)	NP_597681.4:p.Pro14788=
NR_038271.1:n.596+3700C>T (TTN-AS1)
NR_038272.1:n.2044-7423C>T (TTN-AS1)
ENST00000342175.10:c.44364G>A (TTN)	ENSP00000340554.6:p.Pro14788=
ENST00000342175.11:c.44364G>A (TTN)	ENSP00000340554.6:p.Pro14788=
ENST00000342992.10:c.63279G>A (TTN)	ENSP00000343764.6:p.Pro21093=
ENST00000342992.11:c.63279G>A (TTN)	ENSP00000343764.6:p.Pro21093=
ENST00000359218.10:c.44163G>A (TTN)	ENSP00000352154.5:p.Pro14721=
ENST00000359218.9:c.44163G>A (TTN)	ENSP00000352154.5:p.Pro14721=
ENST00000460472.6:c.43788G>A (TTN)	ENSP00000434586.1:p.Pro14596=
ENST00000591111.5:c.66060G>A (TTN)	ENSP00000465570.1:p.Pro22020=
ENST00000615779.4:c.66060G>A (TTN)	ENSP00000483597.1:p.Pro22020=
XM_011511729.1:c.70080G>A (TTN)	XP_011510031.1:p.Pro23360=
XM_011511730.1:c.43974G>A (TTN)	XP_011510032.1:p.Pro14658=
XM_011511731.1:c.43833G>A (TTN)	XP_011510033.1:p.Pro14611=
XM_017004819.1:c.69876G>A (TTN)	XP_016860308.1:p.Pro23292=
XM_017004820.1:c.65274G>A (TTN)	XP_016860309.1:p.Pro21758=
XM_017004821.1:c.65271G>A (TTN)	XP_016860310.1:p.Pro21757=
XM_017004822.1:c.62313G>A (TTN)	XP_016860311.1:p.Pro20771=
XM_017004823.1:c.43929G>A (TTN)	XP_016860312.1:p.Pro14643=
XM_024453094.1:c.65424G>A (TTN)	XP_024308862.1:p.Pro21808=
XM_024453095.1:c.65421G>A (TTN)	XP_024308863.1:p.Pro21807=
XM_024453096.1:c.64854G>A (TTN)	XP_024308864.1:p.Pro21618=
XM_024453097.1:c.62196G>A (TTN)	XP_024308865.1:p.Pro20732=
XM_024453098.1:c.62115G>A (TTN)	XP_024308866.1:p.Pro20705=
XM_024453099.1:c.43878G>A (TTN)	XP_024308867.1:p.Pro14626=
XM_024453100.1:c.33732G>A (TTN)	XP_024308868.1:p.Pro11244=