Canonical Allele Identifier: CA349423269

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178579375A>C , CM000664.2:g.178579375A>C	GRCh38
NC_000002.11:g.179444102A>C , CM000664.1:g.179444102A>C	GRCh37
NC_000002.10:g.179152348A>C	NCBI36
NG_011618.3:g.256428T>G , LRG_391:g.256428T>G
NG_051363.1:g.61549A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.67655T>G (TTN) MANE Select	NP_001254479.2:p.Leu22552Ter
ENST00000589042.5:c.67655T>G (TTN) MANE Select	ENSP00000467141.1:p.Leu22552Ter
NM_001256850.1:c.62732T>G (TTN)	NP_001243779.1:p.Leu20911Ter
NM_003319.4:c.40460T>G (TTN)	NP_003310.4:p.Leu13487Ter
NM_133378.4:c.59951T>G (TTN)	NP_596869.4:p.Leu19984Ter
NM_133432.3:c.40835T>G (TTN)	NP_597676.3:p.Leu13612Ter
NM_133437.4:c.41036T>G (TTN)	NP_597681.4:p.Leu13679Ter
NR_038271.1:n.596+7926A>C (TTN-AS1)
NR_038272.1:n.2044-3197A>C (TTN-AS1)
ENST00000342175.10:c.41036T>G (TTN)	ENSP00000340554.6:p.Leu13679Ter
ENST00000342175.11:c.41036T>G (TTN)	ENSP00000340554.6:p.Leu13679Ter
ENST00000342992.10:c.59951T>G (TTN)	ENSP00000343764.6:p.Leu19984Ter
ENST00000342992.11:c.59951T>G (TTN)	ENSP00000343764.6:p.Leu19984Ter
ENST00000359218.10:c.40835T>G (TTN)	ENSP00000352154.5:p.Leu13612Ter
ENST00000359218.9:c.40835T>G (TTN)	ENSP00000352154.5:p.Leu13612Ter
ENST00000460472.6:c.40460T>G (TTN)	ENSP00000434586.1:p.Leu13487Ter
ENST00000591111.5:c.62732T>G (TTN)	ENSP00000465570.1:p.Leu20911Ter
ENST00000615779.4:c.62732T>G (TTN)	ENSP00000483597.1:p.Leu20911Ter
XM_011511729.1:c.66752T>G (TTN)	XP_011510031.1:p.Leu22251Ter
XM_011511730.1:c.40646T>G (TTN)	XP_011510032.1:p.Leu13549Ter
XM_011511731.1:c.40505T>G (TTN)	XP_011510033.1:p.Leu13502Ter
XM_017004819.1:c.66548T>G (TTN)	XP_016860308.1:p.Leu22183Ter
XM_017004820.1:c.61946T>G (TTN)	XP_016860309.1:p.Leu20649Ter
XM_017004821.1:c.61943T>G (TTN)	XP_016860310.1:p.Leu20648Ter
XM_017004822.1:c.58985T>G (TTN)	XP_016860311.1:p.Leu19662Ter
XM_017004823.1:c.40601T>G (TTN)	XP_016860312.1:p.Leu13534Ter
XM_024453094.1:c.62096T>G (TTN)	XP_024308862.1:p.Leu20699Ter
XM_024453095.1:c.62093T>G (TTN)	XP_024308863.1:p.Leu20698Ter
XM_024453096.1:c.61526T>G (TTN)	XP_024308864.1:p.Leu20509Ter
XM_024453097.1:c.58868T>G (TTN)	XP_024308865.1:p.Leu19623Ter
XM_024453098.1:c.58787T>G (TTN)	XP_024308866.1:p.Leu19596Ter
XM_024453099.1:c.40550T>G (TTN)	XP_024308867.1:p.Leu13517Ter
XM_024453100.1:c.30404T>G (TTN)	XP_024308868.1:p.Leu10135Ter