Canonical Allele Identifier: CA349619137

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179482980T>G (hg19) ; chr2:g.178618253T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178618253T>G , CM000664.2:g.178618253T>G	GRCh38
NC_000002.11:g.179482980T>G , CM000664.1:g.179482980T>G	GRCh37
NC_000002.10:g.179191225T>G	NCBI36
NG_011618.3:g.217550A>C , LRG_391:g.217550A>C
NG_051363.1:g.100427T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.39501A>C (TTN)	ENSP00000343764.6:p.Arg13167Ser
ENST00000342175.11:c.20586A>C (TTN)	ENSP00000340554.6:p.Arg6862Ser
ENST00000359218.10:c.20385A>C (TTN)	ENSP00000352154.5:p.Arg6795Ser
ENST00000342175.10:c.20586A>C (TTN)	ENSP00000340554.6:p.Arg6862Ser
ENST00000342992.10:c.39501A>C (TTN)	ENSP00000343764.6:p.Arg13167Ser
ENST00000359218.9:c.20385A>C (TTN)	ENSP00000352154.5:p.Arg6795Ser
ENST00000460472.6:c.20010A>C (TTN)	ENSP00000434586.1:p.Arg6670Ser
ENST00000589042.5:c.47205A>C (TTN) MANE Select	ENSP00000467141.1:p.Arg15735Ser
ENST00000591111.5:c.42282A>C (TTN)	ENSP00000465570.1:p.Arg14094Ser
ENST00000615779.4:c.42282A>C (TTN)	ENSP00000483597.1:p.Arg14094Ser
NM_001256850.1:c.42282A>C (TTN)	NP_001243779.1:p.Arg14094Ser
NM_001267550.2:c.47205A>C (TTN) MANE Select	NP_001254479.2:p.Arg15735Ser
NM_003319.4:c.20010A>C (TTN)	NP_003310.4:p.Arg6670Ser
NM_133378.4:c.39501A>C (TTN)	NP_596869.4:p.Arg13167Ser
NM_133432.3:c.20385A>C (TTN)	NP_597676.3:p.Arg6795Ser
NM_133437.4:c.20586A>C (TTN)	NP_597681.4:p.Arg6862Ser
NR_038271.1:n.1605-1500T>G (TTN-AS1)
XM_011511729.1:c.46302A>C (TTN)	XP_011510031.1:p.Arg15434Ser
XM_011511730.1:c.20196A>C (TTN)	XP_011510032.1:p.Arg6732Ser
XM_011511731.1:c.20055A>C (TTN)	XP_011510033.1:p.Arg6685Ser
XM_017004819.1:c.46098A>C (TTN)	XP_016860308.1:p.Arg15366Ser
XM_017004820.1:c.41496A>C (TTN)	XP_016860309.1:p.Arg13832Ser
XM_017004821.1:c.41493A>C (TTN)	XP_016860310.1:p.Arg13831Ser
XM_017004822.1:c.38535A>C (TTN)	XP_016860311.1:p.Arg12845Ser
XM_017004823.1:c.20151A>C (TTN)	XP_016860312.1:p.Arg6717Ser
XM_024453094.1:c.41646A>C (TTN)	XP_024308862.1:p.Arg13882Ser
XM_024453095.1:c.41643A>C (TTN)	XP_024308863.1:p.Arg13881Ser
XM_024453096.1:c.41076A>C (TTN)	XP_024308864.1:p.Arg13692Ser
XM_024453097.1:c.38418A>C (TTN)	XP_024308865.1:p.Arg12806Ser
XM_024453098.1:c.38337A>C (TTN)	XP_024308866.1:p.Arg12779Ser
XM_024453099.1:c.20100A>C (TTN)	XP_024308867.1:p.Arg6700Ser
XM_024453100.1:c.9954A>C (TTN)	XP_024308868.1:p.Arg3318Ser