Canonical Allele Identifier: CA349405572

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179394827C>A (hg19) ; chr2:g.178530100C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530100C>A , CM000664.2:g.178530100C>A	GRCh38
NC_000002.11:g.179394827C>A , CM000664.1:g.179394827C>A	GRCh37
NC_000002.10:g.179103073C>A	NCBI36
NG_011618.3:g.305703G>T , LRG_391:g.305703G>T
NG_051363.1:g.12274C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98687G>T (TTN)	ENSP00000343764.6:p.Gly32896Val
ENST00000342175.11:c.79772G>T (TTN)	ENSP00000340554.6:p.Gly26591Val
ENST00000359218.10:c.79571G>T (TTN)	ENSP00000352154.5:p.Gly26524Val
ENST00000342175.10:c.79772G>T (TTN)	ENSP00000340554.6:p.Gly26591Val
ENST00000342992.10:c.98687G>T (TTN)	ENSP00000343764.6:p.Gly32896Val
ENST00000359218.9:c.79571G>T (TTN)	ENSP00000352154.5:p.Gly26524Val
ENST00000460472.6:c.79196G>T (TTN)	ENSP00000434586.1:p.Gly26399Val
ENST00000589042.5:c.106391G>T (TTN) MANE Select	ENSP00000467141.1:p.Gly35464Val
ENST00000591111.5:c.101468G>T (TTN)	ENSP00000465570.1:p.Gly33823Val
ENST00000615779.4:c.101468G>T (TTN)	ENSP00000483597.1:p.Gly33823Val
NM_001256850.1:c.101468G>T (TTN)	NP_001243779.1:p.Gly33823Val
NM_001267550.2:c.106391G>T (TTN) MANE Select	NP_001254479.2:p.Gly35464Val
NM_003319.4:c.79196G>T (TTN)	NP_003310.4:p.Gly26399Val
NM_133378.4:c.98687G>T (TTN)	NP_596869.4:p.Gly32896Val
NM_133432.3:c.79571G>T (TTN)	NP_597676.3:p.Gly26524Val
NM_133437.4:c.79772G>T (TTN)	NP_597681.4:p.Gly26591Val
NR_038271.1:n.446+6464C>A (TTN-AS1)
NR_038272.1:n.220-5632C>A (TTN-AS1)
XM_011511729.1:c.105488G>T (TTN)	XP_011510031.1:p.Gly35163Val
XM_011511730.1:c.79382G>T (TTN)	XP_011510032.1:p.Gly26461Val
XM_011511731.1:c.79241G>T (TTN)	XP_011510033.1:p.Gly26414Val
XM_017004819.1:c.105284G>T (TTN)	XP_016860308.1:p.Gly35095Val
XM_017004820.1:c.100682G>T (TTN)	XP_016860309.1:p.Gly33561Val
XM_017004821.1:c.100679G>T (TTN)	XP_016860310.1:p.Gly33560Val
XM_017004822.1:c.97721G>T (TTN)	XP_016860311.1:p.Gly32574Val
XM_017004823.1:c.79337G>T (TTN)	XP_016860312.1:p.Gly26446Val
XM_024453094.1:c.100832G>T (TTN)	XP_024308862.1:p.Gly33611Val
XM_024453095.1:c.100829G>T (TTN)	XP_024308863.1:p.Gly33610Val
XM_024453096.1:c.100262G>T (TTN)	XP_024308864.1:p.Gly33421Val
XM_024453097.1:c.97604G>T (TTN)	XP_024308865.1:p.Gly32535Val
XM_024453098.1:c.97523G>T (TTN)	XP_024308866.1:p.Gly32508Val
XM_024453099.1:c.79286G>T (TTN)	XP_024308867.1:p.Gly26429Val
XM_024453100.1:c.69140G>T (TTN)	XP_024308868.1:p.Gly23047Val