Canonical Allele Identifier: CA349594321

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179431166C>G (hg19) ; chr2:g.178566439C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178566439C>G , CM000664.2:g.178566439C>G	GRCh38
NC_000002.11:g.179431166C>G , CM000664.1:g.179431166C>G	GRCh37
NC_000002.10:g.179139412C>G	NCBI36
NG_011618.3:g.269364G>C , LRG_391:g.269364G>C
NG_051363.1:g.48613C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.71989G>C (TTN)	ENSP00000343764.6:p.Ala23997Pro
ENST00000342175.11:c.53074G>C (TTN)	ENSP00000340554.6:p.Ala17692Pro
ENST00000359218.10:c.52873G>C (TTN)	ENSP00000352154.5:p.Ala17625Pro
ENST00000342175.10:c.53074G>C (TTN)	ENSP00000340554.6:p.Ala17692Pro
ENST00000342992.10:c.71989G>C (TTN)	ENSP00000343764.6:p.Ala23997Pro
ENST00000359218.9:c.52873G>C (TTN)	ENSP00000352154.5:p.Ala17625Pro
ENST00000460472.6:c.52498G>C (TTN)	ENSP00000434586.1:p.Ala17500Pro
ENST00000589042.5:c.79693G>C (TTN) MANE Select	ENSP00000467141.1:p.Ala26565Pro
ENST00000591111.5:c.74770G>C (TTN)	ENSP00000465570.1:p.Ala24924Pro
ENST00000615779.4:c.74770G>C (TTN)	ENSP00000483597.1:p.Ala24924Pro
NM_001256850.1:c.74770G>C (TTN)	NP_001243779.1:p.Ala24924Pro
NM_001267550.2:c.79693G>C (TTN) MANE Select	NP_001254479.2:p.Ala26565Pro
NM_003319.4:c.52498G>C (TTN)	NP_003310.4:p.Ala17500Pro
NM_133378.4:c.71989G>C (TTN)	NP_596869.4:p.Ala23997Pro
NM_133432.3:c.52873G>C (TTN)	NP_597676.3:p.Ala17625Pro
NM_133437.4:c.53074G>C (TTN)	NP_597681.4:p.Ala17692Pro
NR_038271.1:n.447-4861C>G (TTN-AS1)
NR_038272.1:n.2044-16133C>G (TTN-AS1)
XM_011511729.1:c.78790G>C (TTN)	XP_011510031.1:p.Ala26264Pro
XM_011511730.1:c.52684G>C (TTN)	XP_011510032.1:p.Ala17562Pro
XM_011511731.1:c.52543G>C (TTN)	XP_011510033.1:p.Ala17515Pro
XM_017004819.1:c.78586G>C (TTN)	XP_016860308.1:p.Ala26196Pro
XM_017004820.1:c.73984G>C (TTN)	XP_016860309.1:p.Ala24662Pro
XM_017004821.1:c.73981G>C (TTN)	XP_016860310.1:p.Ala24661Pro
XM_017004822.1:c.71023G>C (TTN)	XP_016860311.1:p.Ala23675Pro
XM_017004823.1:c.52639G>C (TTN)	XP_016860312.1:p.Ala17547Pro
XM_024453094.1:c.74134G>C (TTN)	XP_024308862.1:p.Ala24712Pro
XM_024453095.1:c.74131G>C (TTN)	XP_024308863.1:p.Ala24711Pro
XM_024453096.1:c.73564G>C (TTN)	XP_024308864.1:p.Ala24522Pro
XM_024453097.1:c.70906G>C (TTN)	XP_024308865.1:p.Ala23636Pro
XM_024453098.1:c.70825G>C (TTN)	XP_024308866.1:p.Ala23609Pro
XM_024453099.1:c.52588G>C (TTN)	XP_024308867.1:p.Ala17530Pro
XM_024453100.1:c.42442G>C (TTN)	XP_024308868.1:p.Ala14148Pro