Canonical Allele Identifier: CA349446454

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179408080G>A (hg19) ; chr2:g.178543353G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543353G>A , CM000664.2:g.178543353G>A	GRCh38
NC_000002.11:g.179408080G>A , CM000664.1:g.179408080G>A	GRCh37
NC_000002.10:g.179116326G>A	NCBI36
NG_011618.3:g.292450C>T , LRG_391:g.292450C>T
NG_051363.1:g.25527G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88916C>T (TTN)	ENSP00000343764.6:p.Ala29639Val
ENST00000342175.11:c.70001C>T (TTN)	ENSP00000340554.6:p.Ala23334Val
ENST00000359218.10:c.69800C>T (TTN)	ENSP00000352154.5:p.Ala23267Val
ENST00000342175.10:c.70001C>T (TTN)	ENSP00000340554.6:p.Ala23334Val
ENST00000342992.10:c.88916C>T (TTN)	ENSP00000343764.6:p.Ala29639Val
ENST00000359218.9:c.69800C>T (TTN)	ENSP00000352154.5:p.Ala23267Val
ENST00000460472.6:c.69425C>T (TTN)	ENSP00000434586.1:p.Ala23142Val
ENST00000589042.5:c.96620C>T (TTN) MANE Select	ENSP00000467141.1:p.Ala32207Val
ENST00000591111.5:c.91697C>T (TTN)	ENSP00000465570.1:p.Ala30566Val
ENST00000615779.4:c.91697C>T (TTN)	ENSP00000483597.1:p.Ala30566Val
NM_001256850.1:c.91697C>T (TTN)	NP_001243779.1:p.Ala30566Val
NM_001267550.2:c.96620C>T (TTN) MANE Select	NP_001254479.2:p.Ala32207Val
NM_003319.4:c.69425C>T (TTN)	NP_003310.4:p.Ala23142Val
NM_133378.4:c.88916C>T (TTN)	NP_596869.4:p.Ala29639Val
NM_133432.3:c.69800C>T (TTN)	NP_597676.3:p.Ala23267Val
NM_133437.4:c.70001C>T (TTN)	NP_597681.4:p.Ala23334Val
NR_038271.1:n.446+19717G>A (TTN-AS1)
NR_038272.1:n.2043+992G>A (TTN-AS1)
XM_011511729.1:c.95717C>T (TTN)	XP_011510031.1:p.Ala31906Val
XM_011511730.1:c.69611C>T (TTN)	XP_011510032.1:p.Ala23204Val
XM_011511731.1:c.69470C>T (TTN)	XP_011510033.1:p.Ala23157Val
XM_017004819.1:c.95513C>T (TTN)	XP_016860308.1:p.Ala31838Val
XM_017004820.1:c.90911C>T (TTN)	XP_016860309.1:p.Ala30304Val
XM_017004821.1:c.90908C>T (TTN)	XP_016860310.1:p.Ala30303Val
XM_017004822.1:c.87950C>T (TTN)	XP_016860311.1:p.Ala29317Val
XM_017004823.1:c.69566C>T (TTN)	XP_016860312.1:p.Ala23189Val
XM_024453094.1:c.91061C>T (TTN)	XP_024308862.1:p.Ala30354Val
XM_024453095.1:c.91058C>T (TTN)	XP_024308863.1:p.Ala30353Val
XM_024453096.1:c.90491C>T (TTN)	XP_024308864.1:p.Ala30164Val
XM_024453097.1:c.87833C>T (TTN)	XP_024308865.1:p.Ala29278Val
XM_024453098.1:c.87752C>T (TTN)	XP_024308866.1:p.Ala29251Val
XM_024453099.1:c.69515C>T (TTN)	XP_024308867.1:p.Ala23172Val
XM_024453100.1:c.59369C>T (TTN)	XP_024308868.1:p.Ala19790Val