Canonical Allele Identifier: CA1985588

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178533075C>T , CM000664.2:g.178533075C>T	GRCh38
NC_000002.11:g.179397802C>T , CM000664.1:g.179397802C>T	GRCh37
NC_000002.10:g.179106048C>T	NCBI36
NG_011618.3:g.302728G>A , LRG_391:g.302728G>A
NG_051363.1:g.15249C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.103540G>A (TTN) MANE Select	NP_001254479.2:p.Val34514Ile
ENST00000589042.5:c.103540G>A (TTN) MANE Select	ENSP00000467141.1:p.Val34514Ile
NM_001256850.1:c.98617G>A (TTN)	NP_001243779.1:p.Val32873Ile
NM_003319.4:c.76345G>A (TTN)	NP_003310.4:p.Val25449Ile
NM_133378.4:c.95836G>A (TTN)	NP_596869.4:p.Val31946Ile
NM_133432.3:c.76720G>A (TTN)	NP_597676.3:p.Val25574Ile
NM_133437.4:c.76921G>A (TTN)	NP_597681.4:p.Val25641Ile
NR_038271.1:n.446+9439C>T (TTN-AS1)
NR_038272.1:n.220-2657C>T (TTN-AS1)
ENST00000342175.10:c.76921G>A (TTN)	ENSP00000340554.6:p.Val25641Ile
ENST00000342175.11:c.76921G>A (TTN)	ENSP00000340554.6:p.Val25641Ile
ENST00000342992.10:c.95836G>A (TTN)	ENSP00000343764.6:p.Val31946Ile
ENST00000342992.11:c.95836G>A (TTN)	ENSP00000343764.6:p.Val31946Ile
ENST00000359218.10:c.76720G>A (TTN)	ENSP00000352154.5:p.Val25574Ile
ENST00000359218.9:c.76720G>A (TTN)	ENSP00000352154.5:p.Val25574Ile
ENST00000460472.6:c.76345G>A (TTN)	ENSP00000434586.1:p.Val25449Ile
ENST00000591111.5:c.98617G>A (TTN)	ENSP00000465570.1:p.Val32873Ile
ENST00000615779.4:c.98617G>A (TTN)	ENSP00000483597.1:p.Val32873Ile
XM_011511729.1:c.102637G>A (TTN)	XP_011510031.1:p.Val34213Ile
XM_011511730.1:c.76531G>A (TTN)	XP_011510032.1:p.Val25511Ile
XM_011511731.1:c.76390G>A (TTN)	XP_011510033.1:p.Val25464Ile
XM_017004819.1:c.102433G>A (TTN)	XP_016860308.1:p.Val34145Ile
XM_017004820.1:c.97831G>A (TTN)	XP_016860309.1:p.Val32611Ile
XM_017004821.1:c.97828G>A (TTN)	XP_016860310.1:p.Val32610Ile
XM_017004822.1:c.94870G>A (TTN)	XP_016860311.1:p.Val31624Ile
XM_017004823.1:c.76486G>A (TTN)	XP_016860312.1:p.Val25496Ile
XM_024453094.1:c.97981G>A (TTN)	XP_024308862.1:p.Val32661Ile
XM_024453095.1:c.97978G>A (TTN)	XP_024308863.1:p.Val32660Ile
XM_024453096.1:c.97411G>A (TTN)	XP_024308864.1:p.Val32471Ile
XM_024453097.1:c.94753G>A (TTN)	XP_024308865.1:p.Val31585Ile
XM_024453098.1:c.94672G>A (TTN)	XP_024308866.1:p.Val31558Ile
XM_024453099.1:c.76435G>A (TTN)	XP_024308867.1:p.Val25479Ile
XM_024453100.1:c.66289G>A (TTN)	XP_024308868.1:p.Val22097Ile