Canonical Allele Identifier: CA349607697

Gene: TTN TTN-AS1

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178614655C>A , CM000664.2:g.178614655C>A	GRCh38
NC_000002.11:g.179479382C>A , CM000664.1:g.179479382C>A	GRCh37
NC_000002.10:g.179187627C>A	NCBI36
NG_011618.3:g.221148G>T , LRG_391:g.221148G>T
NG_051363.1:g.96829C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.41155G>T (TTN)	ENSP00000343764.6:p.Glu13719Ter
ENST00000342175.11:c.22240G>T (TTN)	ENSP00000340554.6:p.Glu7414Ter
ENST00000359218.10:c.22039G>T (TTN)	ENSP00000352154.5:p.Glu7347Ter
ENST00000342175.10:c.22240G>T (TTN)	ENSP00000340554.6:p.Glu7414Ter
ENST00000342992.10:c.41155G>T (TTN)	ENSP00000343764.6:p.Glu13719Ter
ENST00000359218.9:c.22039G>T (TTN)	ENSP00000352154.5:p.Glu7347Ter
ENST00000460472.6:c.21664G>T (TTN)	ENSP00000434586.1:p.Glu7222Ter
ENST00000589042.5:c.48859G>T (TTN) MANE Select	ENSP00000467141.1:p.Glu16287Ter
ENST00000591111.5:c.43936G>T (TTN)	ENSP00000465570.1:p.Glu14646Ter
ENST00000615779.4:c.43936G>T (TTN)	ENSP00000483597.1:p.Glu14646Ter
NM_001256850.1:c.43936G>T (TTN)	NP_001243779.1:p.Glu14646Ter
NM_001267550.2:c.48859G>T (TTN) MANE Select	NP_001254479.2:p.Glu16287Ter
NM_003319.4:c.21664G>T (TTN)	NP_003310.4:p.Glu7222Ter
NM_133378.4:c.41155G>T (TTN)	NP_596869.4:p.Glu13719Ter
NM_133432.3:c.22039G>T (TTN)	NP_597676.3:p.Glu7347Ter
NM_133437.4:c.22240G>T (TTN)	NP_597681.4:p.Glu7414Ter
NR_038271.1:n.1403C>A (TTN-AS1)
XM_011511729.1:c.47956G>T (TTN)	XP_011510031.1:p.Glu15986Ter
XM_011511730.1:c.21850G>T (TTN)	XP_011510032.1:p.Glu7284Ter
XM_011511731.1:c.21709G>T (TTN)	XP_011510033.1:p.Glu7237Ter
XM_017004819.1:c.47752G>T (TTN)	XP_016860308.1:p.Glu15918Ter
XM_017004820.1:c.43150G>T (TTN)	XP_016860309.1:p.Glu14384Ter
XM_017004821.1:c.43147G>T (TTN)	XP_016860310.1:p.Glu14383Ter
XM_017004822.1:c.40189G>T (TTN)	XP_016860311.1:p.Glu13397Ter
XM_017004823.1:c.21805G>T (TTN)	XP_016860312.1:p.Glu7269Ter
XM_024453094.1:c.43300G>T (TTN)	XP_024308862.1:p.Glu14434Ter
XM_024453095.1:c.43297G>T (TTN)	XP_024308863.1:p.Glu14433Ter
XM_024453096.1:c.42730G>T (TTN)	XP_024308864.1:p.Glu14244Ter
XM_024453097.1:c.40072G>T (TTN)	XP_024308865.1:p.Glu13358Ter
XM_024453098.1:c.39991G>T (TTN)	XP_024308866.1:p.Glu13331Ter
XM_024453099.1:c.21754G>T (TTN)	XP_024308867.1:p.Glu7252Ter
XM_024453100.1:c.11608G>T (TTN)	XP_024308868.1:p.Glu3870Ter