Canonical Allele Identifier: CA349511705

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179417292C>A (hg19) ; chr2:g.178552565C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178552565C>A , CM000664.2:g.178552565C>A	GRCh38
NC_000002.11:g.179417292C>A , CM000664.1:g.179417292C>A	GRCh37
NC_000002.10:g.179125538C>A	NCBI36
NG_011618.3:g.283238G>T , LRG_391:g.283238G>T
NG_051363.1:g.34739C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.82631G>T (TTN)	ENSP00000343764.6:p.Ser27544Ile
ENST00000342175.11:c.63716G>T (TTN)	ENSP00000340554.6:p.Ser21239Ile
ENST00000359218.10:c.63515G>T (TTN)	ENSP00000352154.5:p.Ser21172Ile
ENST00000342175.10:c.63716G>T (TTN)	ENSP00000340554.6:p.Ser21239Ile
ENST00000342992.10:c.82631G>T (TTN)	ENSP00000343764.6:p.Ser27544Ile
ENST00000359218.9:c.63515G>T (TTN)	ENSP00000352154.5:p.Ser21172Ile
ENST00000460472.6:c.63140G>T (TTN)	ENSP00000434586.1:p.Ser21047Ile
ENST00000589042.5:c.90335G>T (TTN) MANE Select	ENSP00000467141.1:p.Ser30112Ile
ENST00000591111.5:c.85412G>T (TTN)	ENSP00000465570.1:p.Ser28471Ile
ENST00000615779.4:c.85412G>T (TTN)	ENSP00000483597.1:p.Ser28471Ile
NM_001256850.1:c.85412G>T (TTN)	NP_001243779.1:p.Ser28471Ile
NM_001267550.2:c.90335G>T (TTN) MANE Select	NP_001254479.2:p.Ser30112Ile
NM_003319.4:c.63140G>T (TTN)	NP_003310.4:p.Ser21047Ile
NM_133378.4:c.82631G>T (TTN)	NP_596869.4:p.Ser27544Ile
NM_133432.3:c.63515G>T (TTN)	NP_597676.3:p.Ser21172Ile
NM_133437.4:c.63716G>T (TTN)	NP_597681.4:p.Ser21239Ile
NR_038271.1:n.447-18735C>A (TTN-AS1)
NR_038272.1:n.2043+10204C>A (TTN-AS1)
XM_011511729.1:c.89432G>T (TTN)	XP_011510031.1:p.Ser29811Ile
XM_011511730.1:c.63326G>T (TTN)	XP_011510032.1:p.Ser21109Ile
XM_011511731.1:c.63185G>T (TTN)	XP_011510033.1:p.Ser21062Ile
XM_017004819.1:c.89228G>T (TTN)	XP_016860308.1:p.Ser29743Ile
XM_017004820.1:c.84626G>T (TTN)	XP_016860309.1:p.Ser28209Ile
XM_017004821.1:c.84623G>T (TTN)	XP_016860310.1:p.Ser28208Ile
XM_017004822.1:c.81665G>T (TTN)	XP_016860311.1:p.Ser27222Ile
XM_017004823.1:c.63281G>T (TTN)	XP_016860312.1:p.Ser21094Ile
XM_024453094.1:c.84776G>T (TTN)	XP_024308862.1:p.Ser28259Ile
XM_024453095.1:c.84773G>T (TTN)	XP_024308863.1:p.Ser28258Ile
XM_024453096.1:c.84206G>T (TTN)	XP_024308864.1:p.Ser28069Ile
XM_024453097.1:c.81548G>T (TTN)	XP_024308865.1:p.Ser27183Ile
XM_024453098.1:c.81467G>T (TTN)	XP_024308866.1:p.Ser27156Ile
XM_024453099.1:c.63230G>T (TTN)	XP_024308867.1:p.Ser21077Ile
XM_024453100.1:c.53084G>T (TTN)	XP_024308868.1:p.Ser17695Ile