Canonical Allele Identifier: CA349436074

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178584677-A-T
• MyVariant Identifiers: chr2:g.179449404A>T (hg19) ; chr2:g.178584677A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178584677A>T , CM000664.2:g.178584677A>T	GRCh38
NC_000002.11:g.179449404A>T , CM000664.1:g.179449404A>T	GRCh37
NC_000002.10:g.179157650A>T	NCBI36
NG_011618.3:g.251126T>A , LRG_391:g.251126T>A
NG_051363.1:g.66851A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.57260T>A (TTN)	ENSP00000343764.6:p.Phe19087Tyr
ENST00000342175.11:c.38345T>A (TTN)	ENSP00000340554.6:p.Phe12782Tyr
ENST00000359218.10:c.38144T>A (TTN)	ENSP00000352154.5:p.Phe12715Tyr
ENST00000342175.10:c.38345T>A (TTN)	ENSP00000340554.6:p.Phe12782Tyr
ENST00000342992.10:c.57260T>A (TTN)	ENSP00000343764.6:p.Phe19087Tyr
ENST00000359218.9:c.38144T>A (TTN)	ENSP00000352154.5:p.Phe12715Tyr
ENST00000460472.6:c.37769T>A (TTN)	ENSP00000434586.1:p.Phe12590Tyr
ENST00000589042.5:c.64964T>A (TTN) MANE Select	ENSP00000467141.1:p.Phe21655Tyr
ENST00000591111.5:c.60041T>A (TTN)	ENSP00000465570.1:p.Phe20014Tyr
ENST00000615779.4:c.60041T>A (TTN)	ENSP00000483597.1:p.Phe20014Tyr
NM_001256850.1:c.60041T>A (TTN)	NP_001243779.1:p.Phe20014Tyr
NM_001267550.2:c.64964T>A (TTN) MANE Select	NP_001254479.2:p.Phe21655Tyr
NM_003319.4:c.37769T>A (TTN)	NP_003310.4:p.Phe12590Tyr
NM_133378.4:c.57260T>A (TTN)	NP_596869.4:p.Phe19087Tyr
NM_133432.3:c.38144T>A (TTN)	NP_597676.3:p.Phe12715Tyr
NM_133437.4:c.38345T>A (TTN)	NP_597681.4:p.Phe12782Tyr
NR_038271.1:n.597-12919A>T (TTN-AS1)
NR_038272.1:n.2872A>T (TTN-AS1)
XM_011511729.1:c.64061T>A (TTN)	XP_011510031.1:p.Phe21354Tyr
XM_011511730.1:c.37955T>A (TTN)	XP_011510032.1:p.Phe12652Tyr
XM_011511731.1:c.37814T>A (TTN)	XP_011510033.1:p.Phe12605Tyr
XM_017004819.1:c.63857T>A (TTN)	XP_016860308.1:p.Phe21286Tyr
XM_017004820.1:c.59255T>A (TTN)	XP_016860309.1:p.Phe19752Tyr
XM_017004821.1:c.59252T>A (TTN)	XP_016860310.1:p.Phe19751Tyr
XM_017004822.1:c.56294T>A (TTN)	XP_016860311.1:p.Phe18765Tyr
XM_017004823.1:c.37910T>A (TTN)	XP_016860312.1:p.Phe12637Tyr
XM_024453094.1:c.59405T>A (TTN)	XP_024308862.1:p.Phe19802Tyr
XM_024453095.1:c.59402T>A (TTN)	XP_024308863.1:p.Phe19801Tyr
XM_024453096.1:c.58835T>A (TTN)	XP_024308864.1:p.Phe19612Tyr
XM_024453097.1:c.56177T>A (TTN)	XP_024308865.1:p.Phe18726Tyr
XM_024453098.1:c.56096T>A (TTN)	XP_024308866.1:p.Phe18699Tyr
XM_024453099.1:c.37859T>A (TTN)	XP_024308867.1:p.Phe12620Tyr
XM_024453100.1:c.27713T>A (TTN)	XP_024308868.1:p.Phe9238Tyr