Canonical Allele Identifier: CA349405573

Gene: TTN TTN-AS1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98687G>C (TTN)	ENSP00000343764.6:p.Gly32896Ala
ENST00000342175.11:c.79772G>C (TTN)	ENSP00000340554.6:p.Gly26591Ala
ENST00000359218.10:c.79571G>C (TTN)	ENSP00000352154.5:p.Gly26524Ala
ENST00000342175.10:c.79772G>C (TTN)	ENSP00000340554.6:p.Gly26591Ala
ENST00000342992.10:c.98687G>C (TTN)	ENSP00000343764.6:p.Gly32896Ala
ENST00000359218.9:c.79571G>C (TTN)	ENSP00000352154.5:p.Gly26524Ala
ENST00000460472.6:c.79196G>C (TTN)	ENSP00000434586.1:p.Gly26399Ala
ENST00000589042.5:c.106391G>C (TTN) MANE Select	ENSP00000467141.1:p.Gly35464Ala
ENST00000591111.5:c.101468G>C (TTN)	ENSP00000465570.1:p.Gly33823Ala
ENST00000615779.4:c.101468G>C (TTN)	ENSP00000483597.1:p.Gly33823Ala
NM_001256850.1:c.101468G>C (TTN)	NP_001243779.1:p.Gly33823Ala
NM_001267550.2:c.106391G>C (TTN) MANE Select	NP_001254479.2:p.Gly35464Ala
NM_003319.4:c.79196G>C (TTN)	NP_003310.4:p.Gly26399Ala
NM_133378.4:c.98687G>C (TTN)	NP_596869.4:p.Gly32896Ala
NM_133432.3:c.79571G>C (TTN)	NP_597676.3:p.Gly26524Ala
NM_133437.4:c.79772G>C (TTN)	NP_597681.4:p.Gly26591Ala
NR_038271.1:n.446+6464C>G (TTN-AS1)
NR_038272.1:n.220-5632C>G (TTN-AS1)
XM_011511729.1:c.105488G>C (TTN)	XP_011510031.1:p.Gly35163Ala
XM_011511730.1:c.79382G>C (TTN)	XP_011510032.1:p.Gly26461Ala
XM_011511731.1:c.79241G>C (TTN)	XP_011510033.1:p.Gly26414Ala
XM_017004819.1:c.105284G>C (TTN)	XP_016860308.1:p.Gly35095Ala
XM_017004820.1:c.100682G>C (TTN)	XP_016860309.1:p.Gly33561Ala
XM_017004821.1:c.100679G>C (TTN)	XP_016860310.1:p.Gly33560Ala
XM_017004822.1:c.97721G>C (TTN)	XP_016860311.1:p.Gly32574Ala
XM_017004823.1:c.79337G>C (TTN)	XP_016860312.1:p.Gly26446Ala
XM_024453094.1:c.100832G>C (TTN)	XP_024308862.1:p.Gly33611Ala
XM_024453095.1:c.100829G>C (TTN)	XP_024308863.1:p.Gly33610Ala
XM_024453096.1:c.100262G>C (TTN)	XP_024308864.1:p.Gly33421Ala
XM_024453097.1:c.97604G>C (TTN)	XP_024308865.1:p.Gly32535Ala
XM_024453098.1:c.97523G>C (TTN)	XP_024308866.1:p.Gly32508Ala
XM_024453099.1:c.79286G>C (TTN)	XP_024308867.1:p.Gly26429Ala
XM_024453100.1:c.69140G>C (TTN)	XP_024308868.1:p.Gly23047Ala