Canonical Allele Identifier: CA1987933

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178553595C>T , CM000664.2:g.178553595C>T	GRCh38
NC_000002.11:g.179418322C>T , CM000664.1:g.179418322C>T	GRCh37
NC_000002.10:g.179126568C>T	NCBI36
NG_011618.3:g.282208G>A , LRG_391:g.282208G>A
NG_051363.1:g.35769C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.89410G>A (TTN) MANE Select	NP_001254479.2:p.Val29804Ile
ENST00000589042.5:c.89410G>A (TTN) MANE Select	ENSP00000467141.1:p.Val29804Ile
NM_001256850.1:c.84487G>A (TTN)	NP_001243779.1:p.Val28163Ile
NM_003319.4:c.62215G>A (TTN)	NP_003310.4:p.Val20739Ile
NM_133378.4:c.81706G>A (TTN)	NP_596869.4:p.Val27236Ile
NM_133432.3:c.62590G>A (TTN)	NP_597676.3:p.Val20864Ile
NM_133437.4:c.62791G>A (TTN)	NP_597681.4:p.Val20931Ile
NR_038271.1:n.447-17705C>T (TTN-AS1)
NR_038272.1:n.2043+11234C>T (TTN-AS1)
ENST00000342175.10:c.62791G>A (TTN)	ENSP00000340554.6:p.Val20931Ile
ENST00000342175.11:c.62791G>A (TTN)	ENSP00000340554.6:p.Val20931Ile
ENST00000342992.10:c.81706G>A (TTN)	ENSP00000343764.6:p.Val27236Ile
ENST00000342992.11:c.81706G>A (TTN)	ENSP00000343764.6:p.Val27236Ile
ENST00000359218.10:c.62590G>A (TTN)	ENSP00000352154.5:p.Val20864Ile
ENST00000359218.9:c.62590G>A (TTN)	ENSP00000352154.5:p.Val20864Ile
ENST00000460472.6:c.62215G>A (TTN)	ENSP00000434586.1:p.Val20739Ile
ENST00000591111.5:c.84487G>A (TTN)	ENSP00000465570.1:p.Val28163Ile
ENST00000615779.4:c.84487G>A (TTN)	ENSP00000483597.1:p.Val28163Ile
XM_011511729.1:c.88507G>A (TTN)	XP_011510031.1:p.Val29503Ile
XM_011511730.1:c.62401G>A (TTN)	XP_011510032.1:p.Val20801Ile
XM_011511731.1:c.62260G>A (TTN)	XP_011510033.1:p.Val20754Ile
XM_017004819.1:c.88303G>A (TTN)	XP_016860308.1:p.Val29435Ile
XM_017004820.1:c.83701G>A (TTN)	XP_016860309.1:p.Val27901Ile
XM_017004821.1:c.83698G>A (TTN)	XP_016860310.1:p.Val27900Ile
XM_017004822.1:c.80740G>A (TTN)	XP_016860311.1:p.Val26914Ile
XM_017004823.1:c.62356G>A (TTN)	XP_016860312.1:p.Val20786Ile
XM_024453094.1:c.83851G>A (TTN)	XP_024308862.1:p.Val27951Ile
XM_024453095.1:c.83848G>A (TTN)	XP_024308863.1:p.Val27950Ile
XM_024453096.1:c.83281G>A (TTN)	XP_024308864.1:p.Val27761Ile
XM_024453097.1:c.80623G>A (TTN)	XP_024308865.1:p.Val26875Ile
XM_024453098.1:c.80542G>A (TTN)	XP_024308866.1:p.Val26848Ile
XM_024453099.1:c.62305G>A (TTN)	XP_024308867.1:p.Val20769Ile
XM_024453100.1:c.52159G>A (TTN)	XP_024308868.1:p.Val17387Ile