Canonical Allele Identifier: CA349425980

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178580579A>T , CM000664.2:g.178580579A>T	GRCh38
NC_000002.11:g.179445306A>T , CM000664.1:g.179445306A>T	GRCh37
NC_000002.10:g.179153552A>T	NCBI36
NG_011618.3:g.255224T>A , LRG_391:g.255224T>A
NG_051363.1:g.62753A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.66800T>A (TTN) MANE Select	NP_001254479.2:p.Leu22267Ter
ENST00000589042.5:c.66800T>A (TTN) MANE Select	ENSP00000467141.1:p.Leu22267Ter
NM_001256850.1:c.61877T>A (TTN)	NP_001243779.1:p.Leu20626Ter
NM_003319.4:c.39605T>A (TTN)	NP_003310.4:p.Leu13202Ter
NM_133378.4:c.59096T>A (TTN)	NP_596869.4:p.Leu19699Ter
NM_133432.3:c.39980T>A (TTN)	NP_597676.3:p.Leu13327Ter
NM_133437.4:c.40181T>A (TTN)	NP_597681.4:p.Leu13394Ter
NR_038271.1:n.596+9130A>T (TTN-AS1)
NR_038272.1:n.2044-1993A>T (TTN-AS1)
ENST00000342175.10:c.40181T>A (TTN)	ENSP00000340554.6:p.Leu13394Ter
ENST00000342175.11:c.40181T>A (TTN)	ENSP00000340554.6:p.Leu13394Ter
ENST00000342992.10:c.59096T>A (TTN)	ENSP00000343764.6:p.Leu19699Ter
ENST00000342992.11:c.59096T>A (TTN)	ENSP00000343764.6:p.Leu19699Ter
ENST00000359218.10:c.39980T>A (TTN)	ENSP00000352154.5:p.Leu13327Ter
ENST00000359218.9:c.39980T>A (TTN)	ENSP00000352154.5:p.Leu13327Ter
ENST00000460472.6:c.39605T>A (TTN)	ENSP00000434586.1:p.Leu13202Ter
ENST00000591111.5:c.61877T>A (TTN)	ENSP00000465570.1:p.Leu20626Ter
ENST00000615779.4:c.61877T>A (TTN)	ENSP00000483597.1:p.Leu20626Ter
XM_011511729.1:c.65897T>A (TTN)	XP_011510031.1:p.Leu21966Ter
XM_011511730.1:c.39791T>A (TTN)	XP_011510032.1:p.Leu13264Ter
XM_011511731.1:c.39650T>A (TTN)	XP_011510033.1:p.Leu13217Ter
XM_017004819.1:c.65693T>A (TTN)	XP_016860308.1:p.Leu21898Ter
XM_017004820.1:c.61091T>A (TTN)	XP_016860309.1:p.Leu20364Ter
XM_017004821.1:c.61088T>A (TTN)	XP_016860310.1:p.Leu20363Ter
XM_017004822.1:c.58130T>A (TTN)	XP_016860311.1:p.Leu19377Ter
XM_017004823.1:c.39746T>A (TTN)	XP_016860312.1:p.Leu13249Ter
XM_024453094.1:c.61241T>A (TTN)	XP_024308862.1:p.Leu20414Ter
XM_024453095.1:c.61238T>A (TTN)	XP_024308863.1:p.Leu20413Ter
XM_024453096.1:c.60671T>A (TTN)	XP_024308864.1:p.Leu20224Ter
XM_024453097.1:c.58013T>A (TTN)	XP_024308865.1:p.Leu19338Ter
XM_024453098.1:c.57932T>A (TTN)	XP_024308866.1:p.Leu19311Ter
XM_024453099.1:c.39695T>A (TTN)	XP_024308867.1:p.Leu13232Ter
XM_024453100.1:c.29549T>A (TTN)	XP_024308868.1:p.Leu9850Ter