Canonical Allele Identifier: CA1991284

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178579628C>T , CM000664.2:g.178579628C>T	GRCh38
NC_000002.11:g.179444355C>T , CM000664.1:g.179444355C>T	GRCh37
NC_000002.10:g.179152601C>T	NCBI36
NG_011618.3:g.256175G>A , LRG_391:g.256175G>A
NG_051363.1:g.61802C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.67569G>A (TTN) MANE Select	NP_001254479.2:p.Val22523=
ENST00000589042.5:c.67569G>A (TTN) MANE Select	ENSP00000467141.1:p.Val22523=
NM_001256850.1:c.62646G>A (TTN)	NP_001243779.1:p.Val20882=
NM_003319.4:c.40374G>A (TTN)	NP_003310.4:p.Val13458=
NM_133378.4:c.59865G>A (TTN)	NP_596869.4:p.Val19955=
NM_133432.3:c.40749G>A (TTN)	NP_597676.3:p.Val13583=
NM_133437.4:c.40950G>A (TTN)	NP_597681.4:p.Val13650=
NR_038271.1:n.596+8179C>T (TTN-AS1)
NR_038272.1:n.2044-2944C>T (TTN-AS1)
ENST00000342175.10:c.40950G>A (TTN)	ENSP00000340554.6:p.Val13650=
ENST00000342175.11:c.40950G>A (TTN)	ENSP00000340554.6:p.Val13650=
ENST00000342992.10:c.59865G>A (TTN)	ENSP00000343764.6:p.Val19955=
ENST00000342992.11:c.59865G>A (TTN)	ENSP00000343764.6:p.Val19955=
ENST00000359218.10:c.40749G>A (TTN)	ENSP00000352154.5:p.Val13583=
ENST00000359218.9:c.40749G>A (TTN)	ENSP00000352154.5:p.Val13583=
ENST00000460472.6:c.40374G>A (TTN)	ENSP00000434586.1:p.Val13458=
ENST00000591111.5:c.62646G>A (TTN)	ENSP00000465570.1:p.Val20882=
ENST00000615779.4:c.62646G>A (TTN)	ENSP00000483597.1:p.Val20882=
XM_011511729.1:c.66666G>A (TTN)	XP_011510031.1:p.Val22222=
XM_011511730.1:c.40560G>A (TTN)	XP_011510032.1:p.Val13520=
XM_011511731.1:c.40419G>A (TTN)	XP_011510033.1:p.Val13473=
XM_017004819.1:c.66462G>A (TTN)	XP_016860308.1:p.Val22154=
XM_017004820.1:c.61860G>A (TTN)	XP_016860309.1:p.Val20620=
XM_017004821.1:c.61857G>A (TTN)	XP_016860310.1:p.Val20619=
XM_017004822.1:c.58899G>A (TTN)	XP_016860311.1:p.Val19633=
XM_017004823.1:c.40515G>A (TTN)	XP_016860312.1:p.Val13505=
XM_024453094.1:c.62010G>A (TTN)	XP_024308862.1:p.Val20670=
XM_024453095.1:c.62007G>A (TTN)	XP_024308863.1:p.Val20669=
XM_024453096.1:c.61440G>A (TTN)	XP_024308864.1:p.Val20480=
XM_024453097.1:c.58782G>A (TTN)	XP_024308865.1:p.Val19594=
XM_024453098.1:c.58701G>A (TTN)	XP_024308866.1:p.Val19567=
XM_024453099.1:c.40464G>A (TTN)	XP_024308867.1:p.Val13488=
XM_024453100.1:c.30318G>A (TTN)	XP_024308868.1:p.Val10106=