Canonical Allele Identifier: CA349607636

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178614642G>A , CM000664.2:g.178614642G>A	GRCh38
NC_000002.11:g.179479369G>A , CM000664.1:g.179479369G>A	GRCh37
NC_000002.10:g.179187614G>A	NCBI36
NG_011618.3:g.221161C>T , LRG_391:g.221161C>T
NG_051363.1:g.96816G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.48872C>T (TTN) MANE Select	NP_001254479.2:p.Thr16291Ile
ENST00000589042.5:c.48872C>T (TTN) MANE Select	ENSP00000467141.1:p.Thr16291Ile
NM_001256850.1:c.43949C>T (TTN)	NP_001243779.1:p.Thr14650Ile
NM_003319.4:c.21677C>T (TTN)	NP_003310.4:p.Thr7226Ile
NM_133378.4:c.41168C>T (TTN)	NP_596869.4:p.Thr13723Ile
NM_133432.3:c.22052C>T (TTN)	NP_597676.3:p.Thr7351Ile
NM_133437.4:c.22253C>T (TTN)	NP_597681.4:p.Thr7418Ile
NR_038271.1:n.1390G>A (TTN-AS1)
ENST00000342175.10:c.22253C>T (TTN)	ENSP00000340554.6:p.Thr7418Ile
ENST00000342175.11:c.22253C>T (TTN)	ENSP00000340554.6:p.Thr7418Ile
ENST00000342992.10:c.41168C>T (TTN)	ENSP00000343764.6:p.Thr13723Ile
ENST00000342992.11:c.41168C>T (TTN)	ENSP00000343764.6:p.Thr13723Ile
ENST00000359218.10:c.22052C>T (TTN)	ENSP00000352154.5:p.Thr7351Ile
ENST00000359218.9:c.22052C>T (TTN)	ENSP00000352154.5:p.Thr7351Ile
ENST00000460472.6:c.21677C>T (TTN)	ENSP00000434586.1:p.Thr7226Ile
ENST00000591111.5:c.43949C>T (TTN)	ENSP00000465570.1:p.Thr14650Ile
ENST00000615779.4:c.43949C>T (TTN)	ENSP00000483597.1:p.Thr14650Ile
XM_011511729.1:c.47969C>T (TTN)	XP_011510031.1:p.Thr15990Ile
XM_011511730.1:c.21863C>T (TTN)	XP_011510032.1:p.Thr7288Ile
XM_011511731.1:c.21722C>T (TTN)	XP_011510033.1:p.Thr7241Ile
XM_017004819.1:c.47765C>T (TTN)	XP_016860308.1:p.Thr15922Ile
XM_017004820.1:c.43163C>T (TTN)	XP_016860309.1:p.Thr14388Ile
XM_017004821.1:c.43160C>T (TTN)	XP_016860310.1:p.Thr14387Ile
XM_017004822.1:c.40202C>T (TTN)	XP_016860311.1:p.Thr13401Ile
XM_017004823.1:c.21818C>T (TTN)	XP_016860312.1:p.Thr7273Ile
XM_024453094.1:c.43313C>T (TTN)	XP_024308862.1:p.Thr14438Ile
XM_024453095.1:c.43310C>T (TTN)	XP_024308863.1:p.Thr14437Ile
XM_024453096.1:c.42743C>T (TTN)	XP_024308864.1:p.Thr14248Ile
XM_024453097.1:c.40085C>T (TTN)	XP_024308865.1:p.Thr13362Ile
XM_024453098.1:c.40004C>T (TTN)	XP_024308866.1:p.Thr13335Ile
XM_024453099.1:c.21767C>T (TTN)	XP_024308867.1:p.Thr7256Ile
XM_024453100.1:c.11621C>T (TTN)	XP_024308868.1:p.Thr3874Ile