Canonical Allele Identifier: CA1992420

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178590771C>T , CM000664.2:g.178590771C>T	GRCh38
NC_000002.11:g.179455498C>T , CM000664.1:g.179455498C>T	GRCh37
NC_000002.10:g.179163744C>T	NCBI36
NG_011618.3:g.245032G>A , LRG_391:g.245032G>A
NG_051363.1:g.72945C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.60954G>A (TTN) MANE Select	NP_001254479.2:p.Val20318=
ENST00000589042.5:c.60954G>A (TTN) MANE Select	ENSP00000467141.1:p.Val20318=
NM_001256850.1:c.56031G>A (TTN)	NP_001243779.1:p.Val18677=
NM_003319.4:c.33759G>A (TTN)	NP_003310.4:p.Val11253=
NM_133378.4:c.53250G>A (TTN)	NP_596869.4:p.Val17750=
NM_133432.3:c.34134G>A (TTN)	NP_597676.3:p.Val11378=
NM_133437.4:c.34335G>A (TTN)	NP_597681.4:p.Val11445=
NR_038271.1:n.597-6825C>T (TTN-AS1)
NR_038272.1:n.3189-368C>T (TTN-AS1)
ENST00000342175.10:c.34335G>A (TTN)	ENSP00000340554.6:p.Val11445=
ENST00000342175.11:c.34335G>A (TTN)	ENSP00000340554.6:p.Val11445=
ENST00000342992.10:c.53250G>A (TTN)	ENSP00000343764.6:p.Val17750=
ENST00000342992.11:c.53250G>A (TTN)	ENSP00000343764.6:p.Val17750=
ENST00000359218.10:c.34134G>A (TTN)	ENSP00000352154.5:p.Val11378=
ENST00000359218.9:c.34134G>A (TTN)	ENSP00000352154.5:p.Val11378=
ENST00000460472.6:c.33759G>A (TTN)	ENSP00000434586.1:p.Val11253=
ENST00000591111.5:c.56031G>A (TTN)	ENSP00000465570.1:p.Val18677=
ENST00000615779.4:c.56031G>A (TTN)	ENSP00000483597.1:p.Val18677=
XM_011511729.1:c.60051G>A (TTN)	XP_011510031.1:p.Val20017=
XM_011511730.1:c.33945G>A (TTN)	XP_011510032.1:p.Val11315=
XM_011511731.1:c.33804G>A (TTN)	XP_011510033.1:p.Val11268=
XM_017004819.1:c.59847G>A (TTN)	XP_016860308.1:p.Val19949=
XM_017004820.1:c.55245G>A (TTN)	XP_016860309.1:p.Val18415=
XM_017004821.1:c.55242G>A (TTN)	XP_016860310.1:p.Val18414=
XM_017004822.1:c.52284G>A (TTN)	XP_016860311.1:p.Val17428=
XM_017004823.1:c.33900G>A (TTN)	XP_016860312.1:p.Val11300=
XM_024453094.1:c.55395G>A (TTN)	XP_024308862.1:p.Val18465=
XM_024453095.1:c.55392G>A (TTN)	XP_024308863.1:p.Val18464=
XM_024453096.1:c.54825G>A (TTN)	XP_024308864.1:p.Val18275=
XM_024453097.1:c.52167G>A (TTN)	XP_024308865.1:p.Val17389=
XM_024453098.1:c.52086G>A (TTN)	XP_024308866.1:p.Val17362=
XM_024453099.1:c.33849G>A (TTN)	XP_024308867.1:p.Val11283=
XM_024453100.1:c.23703G>A (TTN)	XP_024308868.1:p.Val7901=