Canonical Allele Identifier: CA349665243

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179440816G>A (hg19) ; chr2:g.178576089G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178576089G>A , CM000664.2:g.178576089G>A	GRCh38
NC_000002.11:g.179440816G>A , CM000664.1:g.179440816G>A	GRCh37
NC_000002.10:g.179149062G>A	NCBI36
NG_011618.3:g.259714C>T , LRG_391:g.259714C>T
NG_051363.1:g.58263G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.62339C>T (TTN)	ENSP00000343764.6:p.Ala20780Val
ENST00000342175.11:c.43424C>T (TTN)	ENSP00000340554.6:p.Ala14475Val
ENST00000359218.10:c.43223C>T (TTN)	ENSP00000352154.5:p.Ala14408Val
ENST00000342175.10:c.43424C>T (TTN)	ENSP00000340554.6:p.Ala14475Val
ENST00000342992.10:c.62339C>T (TTN)	ENSP00000343764.6:p.Ala20780Val
ENST00000359218.9:c.43223C>T (TTN)	ENSP00000352154.5:p.Ala14408Val
ENST00000460472.6:c.42848C>T (TTN)	ENSP00000434586.1:p.Ala14283Val
ENST00000589042.5:c.70043C>T (TTN) MANE Select	ENSP00000467141.1:p.Ala23348Val
ENST00000591111.5:c.65120C>T (TTN)	ENSP00000465570.1:p.Ala21707Val
ENST00000615779.4:c.65120C>T (TTN)	ENSP00000483597.1:p.Ala21707Val
NM_001256850.1:c.65120C>T (TTN)	NP_001243779.1:p.Ala21707Val
NM_001267550.2:c.70043C>T (TTN) MANE Select	NP_001254479.2:p.Ala23348Val
NM_003319.4:c.42848C>T (TTN)	NP_003310.4:p.Ala14283Val
NM_133378.4:c.62339C>T (TTN)	NP_596869.4:p.Ala20780Val
NM_133432.3:c.43223C>T (TTN)	NP_597676.3:p.Ala14408Val
NM_133437.4:c.43424C>T (TTN)	NP_597681.4:p.Ala14475Val
NR_038271.1:n.596+4640G>A (TTN-AS1)
NR_038272.1:n.2044-6483G>A (TTN-AS1)
XM_011511729.1:c.69140C>T (TTN)	XP_011510031.1:p.Ala23047Val
XM_011511730.1:c.43034C>T (TTN)	XP_011510032.1:p.Ala14345Val
XM_011511731.1:c.42893C>T (TTN)	XP_011510033.1:p.Ala14298Val
XM_017004819.1:c.68936C>T (TTN)	XP_016860308.1:p.Ala22979Val
XM_017004820.1:c.64334C>T (TTN)	XP_016860309.1:p.Ala21445Val
XM_017004821.1:c.64331C>T (TTN)	XP_016860310.1:p.Ala21444Val
XM_017004822.1:c.61373C>T (TTN)	XP_016860311.1:p.Ala20458Val
XM_017004823.1:c.42989C>T (TTN)	XP_016860312.1:p.Ala14330Val
XM_024453094.1:c.64484C>T (TTN)	XP_024308862.1:p.Ala21495Val
XM_024453095.1:c.64481C>T (TTN)	XP_024308863.1:p.Ala21494Val
XM_024453096.1:c.63914C>T (TTN)	XP_024308864.1:p.Ala21305Val
XM_024453097.1:c.61256C>T (TTN)	XP_024308865.1:p.Ala20419Val
XM_024453098.1:c.61175C>T (TTN)	XP_024308866.1:p.Ala20392Val
XM_024453099.1:c.42938C>T (TTN)	XP_024308867.1:p.Ala14313Val
XM_024453100.1:c.32792C>T (TTN)	XP_024308868.1:p.Ala10931Val