Canonical Allele Identifier: CA349428148

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179402425A>G (hg19) ; chr2:g.178537698A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178537698A>G , CM000664.2:g.178537698A>G	GRCh38
NC_000002.11:g.179402425A>G , CM000664.1:g.179402425A>G	GRCh37
NC_000002.10:g.179110671A>G	NCBI36
NG_011618.3:g.298105T>C , LRG_391:g.298105T>C
NG_051363.1:g.19872A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.91805T>C (TTN)	ENSP00000343764.6:p.Val30602Ala
ENST00000342175.11:c.72890T>C (TTN)	ENSP00000340554.6:p.Val24297Ala
ENST00000359218.10:c.72689T>C (TTN)	ENSP00000352154.5:p.Val24230Ala
ENST00000342175.10:c.72890T>C (TTN)	ENSP00000340554.6:p.Val24297Ala
ENST00000342992.10:c.91805T>C (TTN)	ENSP00000343764.6:p.Val30602Ala
ENST00000359218.9:c.72689T>C (TTN)	ENSP00000352154.5:p.Val24230Ala
ENST00000460472.6:c.72314T>C (TTN)	ENSP00000434586.1:p.Val24105Ala
ENST00000589042.5:c.99509T>C (TTN) MANE Select	ENSP00000467141.1:p.Val33170Ala
ENST00000591111.5:c.94586T>C (TTN)	ENSP00000465570.1:p.Val31529Ala
ENST00000615779.4:c.94586T>C (TTN)	ENSP00000483597.1:p.Val31529Ala
NM_001256850.1:c.94586T>C (TTN)	NP_001243779.1:p.Val31529Ala
NM_001267550.2:c.99509T>C (TTN) MANE Select	NP_001254479.2:p.Val33170Ala
NM_003319.4:c.72314T>C (TTN)	NP_003310.4:p.Val24105Ala
NM_133378.4:c.91805T>C (TTN)	NP_596869.4:p.Val30602Ala
NM_133432.3:c.72689T>C (TTN)	NP_597676.3:p.Val24230Ala
NM_133437.4:c.72890T>C (TTN)	NP_597681.4:p.Val24297Ala
NR_038271.1:n.446+14062A>G (TTN-AS1)
NR_038272.1:n.647+7A>G (TTN-AS1)
XM_011511729.1:c.98606T>C (TTN)	XP_011510031.1:p.Val32869Ala
XM_011511730.1:c.72500T>C (TTN)	XP_011510032.1:p.Val24167Ala
XM_011511731.1:c.72359T>C (TTN)	XP_011510033.1:p.Val24120Ala
XM_017004819.1:c.98402T>C (TTN)	XP_016860308.1:p.Val32801Ala
XM_017004820.1:c.93800T>C (TTN)	XP_016860309.1:p.Val31267Ala
XM_017004821.1:c.93797T>C (TTN)	XP_016860310.1:p.Val31266Ala
XM_017004822.1:c.90839T>C (TTN)	XP_016860311.1:p.Val30280Ala
XM_017004823.1:c.72455T>C (TTN)	XP_016860312.1:p.Val24152Ala
XM_024453094.1:c.93950T>C (TTN)	XP_024308862.1:p.Val31317Ala
XM_024453095.1:c.93947T>C (TTN)	XP_024308863.1:p.Val31316Ala
XM_024453096.1:c.93380T>C (TTN)	XP_024308864.1:p.Val31127Ala
XM_024453097.1:c.90722T>C (TTN)	XP_024308865.1:p.Val30241Ala
XM_024453098.1:c.90641T>C (TTN)	XP_024308866.1:p.Val30214Ala
XM_024453099.1:c.72404T>C (TTN)	XP_024308867.1:p.Val24135Ala
XM_024453100.1:c.62258T>C (TTN)	XP_024308868.1:p.Val20753Ala