Canonical Allele Identifier: CA349523895

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179463283T>C (hg19) ; chr2:g.178598556T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178598556T>C , CM000664.2:g.178598556T>C	GRCh38
NC_000002.11:g.179463283T>C , CM000664.1:g.179463283T>C	GRCh37
NC_000002.10:g.179171528T>C	NCBI36
NG_011618.3:g.237247A>G , LRG_391:g.237247A>G
NG_051363.1:g.80730T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.49357A>G (TTN)	ENSP00000343764.6:p.Thr16453Ala
ENST00000342175.11:c.30442A>G (TTN)	ENSP00000340554.6:p.Thr10148Ala
ENST00000359218.10:c.30241A>G (TTN)	ENSP00000352154.5:p.Thr10081Ala
ENST00000342175.10:c.30442A>G (TTN)	ENSP00000340554.6:p.Thr10148Ala
ENST00000342992.10:c.49357A>G (TTN)	ENSP00000343764.6:p.Thr16453Ala
ENST00000359218.9:c.30241A>G (TTN)	ENSP00000352154.5:p.Thr10081Ala
ENST00000460472.6:c.29866A>G (TTN)	ENSP00000434586.1:p.Thr9956Ala
ENST00000589042.5:c.57061A>G (TTN) MANE Select	ENSP00000467141.1:p.Thr19021Ala
ENST00000591111.5:c.52138A>G (TTN)	ENSP00000465570.1:p.Thr17380Ala
ENST00000615779.4:c.52138A>G (TTN)	ENSP00000483597.1:p.Thr17380Ala
NM_001256850.1:c.52138A>G (TTN)	NP_001243779.1:p.Thr17380Ala
NM_001267550.2:c.57061A>G (TTN) MANE Select	NP_001254479.2:p.Thr19021Ala
NM_003319.4:c.29866A>G (TTN)	NP_003310.4:p.Thr9956Ala
NM_133378.4:c.49357A>G (TTN)	NP_596869.4:p.Thr16453Ala
NM_133432.3:c.30241A>G (TTN)	NP_597676.3:p.Thr10081Ala
NM_133437.4:c.30442A>G (TTN)	NP_597681.4:p.Thr10148Ala
NR_038271.1:n.682+875T>C (TTN-AS1)
NR_038272.1:n.3451T>C (TTN-AS1)
XM_011511729.1:c.56158A>G (TTN)	XP_011510031.1:p.Thr18720Ala
XM_011511730.1:c.30052A>G (TTN)	XP_011510032.1:p.Thr10018Ala
XM_011511731.1:c.29911A>G (TTN)	XP_011510033.1:p.Thr9971Ala
XM_017004819.1:c.55954A>G (TTN)	XP_016860308.1:p.Thr18652Ala
XM_017004820.1:c.51352A>G (TTN)	XP_016860309.1:p.Thr17118Ala
XM_017004821.1:c.51349A>G (TTN)	XP_016860310.1:p.Thr17117Ala
XM_017004822.1:c.48391A>G (TTN)	XP_016860311.1:p.Thr16131Ala
XM_017004823.1:c.30007A>G (TTN)	XP_016860312.1:p.Thr10003Ala
XM_024453094.1:c.51502A>G (TTN)	XP_024308862.1:p.Thr17168Ala
XM_024453095.1:c.51499A>G (TTN)	XP_024308863.1:p.Thr17167Ala
XM_024453096.1:c.50932A>G (TTN)	XP_024308864.1:p.Thr16978Ala
XM_024453097.1:c.48274A>G (TTN)	XP_024308865.1:p.Thr16092Ala
XM_024453098.1:c.48193A>G (TTN)	XP_024308866.1:p.Thr16065Ala
XM_024453099.1:c.29956A>G (TTN)	XP_024308867.1:p.Thr9986Ala
XM_024453100.1:c.19810A>G (TTN)	XP_024308868.1:p.Thr6604Ala