Canonical Allele Identifier: CA349424057

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178579990C>A , CM000664.2:g.178579990C>A	GRCh38
NC_000002.11:g.179444717C>A , CM000664.1:g.179444717C>A	GRCh37
NC_000002.10:g.179152963C>A	NCBI36
NG_011618.3:g.255813G>T , LRG_391:g.255813G>T
NG_051363.1:g.62164C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.67297G>T (TTN) MANE Select	NP_001254479.2:p.Glu22433Ter
ENST00000589042.5:c.67297G>T (TTN) MANE Select	ENSP00000467141.1:p.Glu22433Ter
NM_001256850.1:c.62374G>T (TTN)	NP_001243779.1:p.Glu20792Ter
NM_003319.4:c.40102G>T (TTN)	NP_003310.4:p.Glu13368Ter
NM_133378.4:c.59593G>T (TTN)	NP_596869.4:p.Glu19865Ter
NM_133432.3:c.40477G>T (TTN)	NP_597676.3:p.Glu13493Ter
NM_133437.4:c.40678G>T (TTN)	NP_597681.4:p.Glu13560Ter
NR_038271.1:n.596+8541C>A (TTN-AS1)
NR_038272.1:n.2044-2582C>A (TTN-AS1)
ENST00000342175.10:c.40678G>T (TTN)	ENSP00000340554.6:p.Glu13560Ter
ENST00000342175.11:c.40678G>T (TTN)	ENSP00000340554.6:p.Glu13560Ter
ENST00000342992.10:c.59593G>T (TTN)	ENSP00000343764.6:p.Glu19865Ter
ENST00000342992.11:c.59593G>T (TTN)	ENSP00000343764.6:p.Glu19865Ter
ENST00000359218.10:c.40477G>T (TTN)	ENSP00000352154.5:p.Glu13493Ter
ENST00000359218.9:c.40477G>T (TTN)	ENSP00000352154.5:p.Glu13493Ter
ENST00000460472.6:c.40102G>T (TTN)	ENSP00000434586.1:p.Glu13368Ter
ENST00000591111.5:c.62374G>T (TTN)	ENSP00000465570.1:p.Glu20792Ter
ENST00000615779.4:c.62374G>T (TTN)	ENSP00000483597.1:p.Glu20792Ter
XM_011511729.1:c.66394G>T (TTN)	XP_011510031.1:p.Glu22132Ter
XM_011511730.1:c.40288G>T (TTN)	XP_011510032.1:p.Glu13430Ter
XM_011511731.1:c.40147G>T (TTN)	XP_011510033.1:p.Glu13383Ter
XM_017004819.1:c.66190G>T (TTN)	XP_016860308.1:p.Glu22064Ter
XM_017004820.1:c.61588G>T (TTN)	XP_016860309.1:p.Glu20530Ter
XM_017004821.1:c.61585G>T (TTN)	XP_016860310.1:p.Glu20529Ter
XM_017004822.1:c.58627G>T (TTN)	XP_016860311.1:p.Glu19543Ter
XM_017004823.1:c.40243G>T (TTN)	XP_016860312.1:p.Glu13415Ter
XM_024453094.1:c.61738G>T (TTN)	XP_024308862.1:p.Glu20580Ter
XM_024453095.1:c.61735G>T (TTN)	XP_024308863.1:p.Glu20579Ter
XM_024453096.1:c.61168G>T (TTN)	XP_024308864.1:p.Glu20390Ter
XM_024453097.1:c.58510G>T (TTN)	XP_024308865.1:p.Glu19504Ter
XM_024453098.1:c.58429G>T (TTN)	XP_024308866.1:p.Glu19477Ter
XM_024453099.1:c.40192G>T (TTN)	XP_024308867.1:p.Glu13398Ter
XM_024453100.1:c.30046G>T (TTN)	XP_024308868.1:p.Glu10016Ter