Canonical Allele Identifier: CA349534970

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178599812C>A , CM000664.2:g.178599812C>A	GRCh38
NC_000002.11:g.179464539C>A , CM000664.1:g.179464539C>A	GRCh37
NC_000002.10:g.179172784C>A	NCBI36
NG_011618.3:g.235991G>T , LRG_391:g.235991G>T
NG_051363.1:g.81986C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.56089G>T (TTN) MANE Select	NP_001254479.2:p.Glu18697Ter
ENST00000589042.5:c.56089G>T (TTN) MANE Select	ENSP00000467141.1:p.Glu18697Ter
NM_001256850.1:c.51166G>T (TTN)	NP_001243779.1:p.Glu17056Ter
NM_003319.4:c.28894G>T (TTN)	NP_003310.4:p.Glu9632Ter
NM_133378.4:c.48385G>T (TTN)	NP_596869.4:p.Glu16129Ter
NM_133432.3:c.29269G>T (TTN)	NP_597676.3:p.Glu9757Ter
NM_133437.4:c.29470G>T (TTN)	NP_597681.4:p.Glu9824Ter
NR_038271.1:n.682+2131C>A (TTN-AS1)
NR_038272.1:n.3725+62C>A (TTN-AS1)
ENST00000342175.10:c.29470G>T (TTN)	ENSP00000340554.6:p.Glu9824Ter
ENST00000342175.11:c.29470G>T (TTN)	ENSP00000340554.6:p.Glu9824Ter
ENST00000342992.10:c.48385G>T (TTN)	ENSP00000343764.6:p.Glu16129Ter
ENST00000342992.11:c.48385G>T (TTN)	ENSP00000343764.6:p.Glu16129Ter
ENST00000359218.10:c.29269G>T (TTN)	ENSP00000352154.5:p.Glu9757Ter
ENST00000359218.9:c.29269G>T (TTN)	ENSP00000352154.5:p.Glu9757Ter
ENST00000460472.6:c.28894G>T (TTN)	ENSP00000434586.1:p.Glu9632Ter
ENST00000591111.5:c.51166G>T (TTN)	ENSP00000465570.1:p.Glu17056Ter
ENST00000615779.4:c.51166G>T (TTN)	ENSP00000483597.1:p.Glu17056Ter
XM_011511729.1:c.55186G>T (TTN)	XP_011510031.1:p.Glu18396Ter
XM_011511730.1:c.29080G>T (TTN)	XP_011510032.1:p.Glu9694Ter
XM_011511731.1:c.28939G>T (TTN)	XP_011510033.1:p.Glu9647Ter
XM_017004819.1:c.54982G>T (TTN)	XP_016860308.1:p.Glu18328Ter
XM_017004820.1:c.50380G>T (TTN)	XP_016860309.1:p.Glu16794Ter
XM_017004821.1:c.50377G>T (TTN)	XP_016860310.1:p.Glu16793Ter
XM_017004822.1:c.47419G>T (TTN)	XP_016860311.1:p.Glu15807Ter
XM_017004823.1:c.29035G>T (TTN)	XP_016860312.1:p.Glu9679Ter
XM_024453094.1:c.50530G>T (TTN)	XP_024308862.1:p.Glu16844Ter
XM_024453095.1:c.50527G>T (TTN)	XP_024308863.1:p.Glu16843Ter
XM_024453096.1:c.49960G>T (TTN)	XP_024308864.1:p.Glu16654Ter
XM_024453097.1:c.47302G>T (TTN)	XP_024308865.1:p.Glu15768Ter
XM_024453098.1:c.47221G>T (TTN)	XP_024308866.1:p.Glu15741Ter
XM_024453099.1:c.28984G>T (TTN)	XP_024308867.1:p.Glu9662Ter
XM_024453100.1:c.18838G>T (TTN)	XP_024308868.1:p.Glu6280Ter